Impact of Semi-Permanent Nail Polish on Forensic DNA Profiling and Phenotyping from Fingernails
Anno: 2026
Rivista: GENES
Autori/autrici: Fazio, Giulia; Amurri, Sara; Giorgetti, Arianna; Melchionda, Filomena; Turchi, Chiara; Pelotti, Susi; Bini, Carla
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/355272
Citazioni:
Impact of Semi-Permanent Nail Polish on Forensic DNA Profiling and Phenotyping from Fingernails / Fazio, G., Amurri, S., Giorgetti, A., Melchionda, F., Turchi, C., Pelotti, S., Bini, C.. - In: GENES. - ISSN 2073-4425. - 17:3(2026). [10.3390/genes17030322]
Abstract:
Background/objectives: The increasing global trend in nail beautification may lead to analyses of nails with semi-permanent polish for the identification of degraded human remains. This study aimed to evaluate the effects of cosmetic nail treatment on forensic STR DNA profiling and phenotyping of ey...e, hair, and skin colour characteristics using a massively parallel sequencing (MPS) assay. Methods: Forty-two nail samples obtained from 21 volunteers, classified in "new", occasional and regular semi-permanent polish users, were submitted to DNA analysis. Results: The use of semi-permanent nail polish, particularly when applied repeatedly, resulted in a significant reduction in DNA recovery, but it did not affect STR typing for personal identification. Mixed STR profiles were observed in 28.6% of the samples, indicating that the nail washing procedure employed before DNA extraction did not completely remove the foreign DNA; however, this could be useful depending on the forensic context. FDP analysis was successfully applied on nails with semi-permanent polish that showed a good quantity of DNA and single-source profiles. Conclusions: The results highlight the evidentiary value of fingernails even if treated with semi-permanent nail polish that should still be regarded as a source of DNA for personal identification and further investigation in the forensic context.
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MitoMetrics: Incorporation of mtDNA profile discrepancies in likelihood ratio calculations
Anno: 2026
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Claessens, Floor; Andersen, Mikkel Meyer; Amory, Christina; Arévalo, Cristina; Desmyter, Stijn; Dognaux, Sophie; Van Der Gaag, Kristiaan J.; Grzybowski, Tomasz; Huber, Gabriela; Melchionda, Filomena; Nakanishi, Hiroaki; Olsen, Tóra; Pie, Cristina; Prieto, Lourdes; Skonieczna, Katarzyna; Turchi, Chiara; Parson, Walther; Pereira, Vania
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/355273
Citazioni:
MitoMetrics: Incorporation of mtDNA profile discrepancies in likelihood ratio calculations / Claessens, F., Andersen, M.M., Amory, C., Arévalo, C., Desmyter, S., Dognaux, S., Van Der Gaag, K.J., Grzybowski, T., Huber, G., Melchionda, F., Nakanishi, H., Olsen, T., Pie, C., Prieto, L., Skonieczna, K., Turchi, C., Parson, W., Pereira, V.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 84:(2026). [10.1016/j.fsigen.2026.103477]
Abstract:
Interpretation of mitochondrial DNA (mtDNA) evidence in a forensic context faces challenges, particularly when evaluating mtDNA profiles from different tissues. In hair, for example, the segregation of mtDNA shows tight bottlenecks that can result in different mtDNA profiles between and along hair s...hafts, and between hair and other reference tissues of the same donor. Current forensic interpretation guidelines for mtDNA are based on conventions on the number of discrepant positions observed between the two compared profiles. Most legislations consider two discrepancies between samples as an exclusion, and one discrepancy as an inclusion or as an inconclusive result. More data are needed to understand the variation and occurrence of discrepancies in samples from the same donor, to be able to incorporate this knowledge into a mathematical approach that effectively quantifies the probability of these events. This study reports the first project of the MitoMetrics collaborative initiative. In this study, data were generated from several participating laboratories, and previously published data, along with data generated from casework. mtDNA profiles from blood/buccal reference samples were compared to those from hair shafts from the same individuals. Results report the levels of heteroplasmy detected in the different tissues, the number of differences observed between the tissue comparisons, and the number of discrepant positions observed. We suggest a preliminary model for calculating the evidential value of mtDNAbased evidence using a likelihood ratio approach, that takes into consideration the occurrence of discrepancies between profiles from the same donor. This work represents the first attempt to quantify the probability of finding discrepant events between tissues and to incorporate these when reporting mtDNA in a forensic context.
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From Old to Bold: Advancing microRNA Studies in Sudden Cardiac Death Through Molecular Analysis of FFPE Heart Tissue
Anno: 2026
Rivista: GENES
Autori/autrici: Bernini Di Michele, Alessia; Turchi, Chiara; Pesaresi, Mauro
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/360812
Citazioni:
From Old to Bold: Advancing microRNA Studies in Sudden Cardiac Death Through Molecular Analysis of FFPE Heart Tissue / Bernini Di Michele, A., Turchi, C., Pesaresi, M.. - In: GENES. - ISSN 2073-4425. - ELETTRONICO. - 17:(2026). [10.3390/genes17070819]
Abstract:
Background/Objectives: Sudden cardiac death (SCD) is a natural death of cardiac origin, accounting for an estimated 6–9 million deaths worldwide each year and representing a major public health challenge. Despite its clinical and forensic relevance, the molecular investigation of SCD remains l...imited. Peripheral blood or fresh tissue, the preferred specimens for post-mortem genetic testing, are not always available, and DNA extracted from formalin-fixed paraffin-embedded (FFPE) tissues is often suboptimal for conventional genetic analyses. This review evaluates the potential of archived FFPE cardiac tissue as a source for microRNA (miRNA) analysis in molecular autopsy. Methods: A narrative review was conducted by collecting studies investigating miRNA expression in FFPE cardiac tissue relevant to SCD. Ten studies met the inclusion criteria and were critically analyzed. Results: Although the available evidence remains limited, recent studies have identified several differentially expressed miRNAs associated with cardiac diseases relevant to SCD. Owing to their small size and remarkable stability, miRNAs remain detectable in FFPE tissues despite fixation and long-term storage, making them attractive molecular biomarkers. While most available studies were conducted in clinical rather than forensic settings, they demonstrate the feasibility and analytical robustness of miRNA profiling in archived FFPE cardiac specimens. Conclusions: This review underlines the importance of reconsidering archived FFPE tissues not merely as historical or morphological resources, but as promising matrices for molecular autopsy of SCD supporting the identification and validation of novel molecular biomarkers. © 2026 by the authors.
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Microhaplotypes in forensic genetics: From exploration to application in degraded DNA specimens
Anno: 2026
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Turchi, Chiara; Melchionda, Filomena; Gentile, Fabiano; Marino, Alberto; Colloca, Domenico; Pesaresi, Mauro; Pakstis, Andrew J.; Kidd, Kenneth K.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/350912
Citazioni:
Microhaplotypes in forensic genetics: From exploration to application in degraded DNA specimens / Turchi, C., Melchionda, F., Gentile, F., Marino, A., Colloca, D., Pesaresi, M., Pakstis, A.J., Kidd, K.K.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 81:(2026). [10.1016/j.fsigen.2025.103391]
Abstract:
Microhaplotypes have emerged as powerful forensic markers over the past decade. This paper sets out the development of a MPS panel of microhaps and its potential for application to identification, analysis of degraded DNA, ancestry inference, and identification of close biological relationships. To ...make it more effective when dealing with fragmented DNA, the MPS assay was designed to ensure a reduced amplicon size of less than 140 bp. After MPS assay validation, a panel of 76 microhaps, comprised of 299 different SNPs and spread across the autosomal human genome, was established. A total of 102 Italian individuals were analyzed to estimate the genotype and haplotype frequencies. The effective number of alleles at each locus (Ae) for the Italian population ranges from 1.926 to 6.187, with 59 MHs that have values greater than 3.0. The matching probability (PI) ranges from 0.055 to 0.345 and the cumulative PI value is 11.763E-66. Complete and reliable profiles were obtained with as little as 0.05 ng. The MHs panel was then validated on real forensic specimens chosen on the basis of their DNA content and degradation level. The majority of the casework samples analyzed showed complete or nearly complete MH profiles even in degraded samples. To assess the informative power of MH profiles in forensic casework, probabilistic genotyping on partial MH profiles has been used. The resulting likelihood ratio values range from 7.84E+09 to 2.70E+34, thus defining an extremely strong support for the hypothesis that the genetic profile in a casework sample comes from the reference sample. Pairwise kinship simulations using allele frequencies from Italian population samples showed that full- and half-sibling relationships can be readily distinguished from unrelated individuals. For evaluation of the 76 MH panel's utility for ancestry informativeness, PCA and STRUCTURE analyses are also presented comparing the newly collected sample from Ancona Italy with the 26 populations of the 1000 Genomes Project. The results of the analysis confirmed the effectiveness of these short microhaplotypes in typing, with high sensitivity, samples with highly degraded DNA typically encountered in forensic cases.
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Cardiac Genetic Variants in Sudden, Unexpected Death in Epilepsy: From Challenging DNA Extraction Methods to Updated NGS Panels for Improved Genetic Analysis
Anno: 2025
Rivista: GENES
Autori/autrici: Bernini Di Michele, Alessia; Onofri, Valerio; Melchionda, Filomena; Fiordelmondo, Lucia; Ciarimboli, Eleonora; Palpacelli, Marco; Sablone, Sara; Turchi, Chiara; Pesaresi, Mauro
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/349293
Citazioni:
Cardiac Genetic Variants in Sudden, Unexpected Death in Epilepsy: From Challenging DNA Extraction Methods to Updated NGS Panels for Improved Genetic Analysis / Bernini Di Michele, A., Onofri, V., Melchionda, F., Fiordelmondo, L., Ciarimboli, E., Palpacelli, M., Sablone, S., Turchi, C., Pesaresi, M.. - In: GENES. - ISSN 2073-4425. - 16:11(2025). [10.3390/genes16111272]
Abstract:
Background/Objectives: SUDEP is the sudden, unexpected death of someone with epilepsy, and occurs mainly during sleep or at rest, or when the individual does not seem to have experienced a convulsive seizure. The cause of death in SUDEP is still unknown, and it may differ between cases. Cardiac fact...ors are among the most prevalent causes observed in SUDEP. Therefore, within the forensic medicine framework, identifying well-known DNA markers involved in cardiac sudden and unexpected death would aid in understanding the cause of SUDEP, as well as in finding cardiac risk markers in patients with epilepsy. The purpose of this study was to identify any genetic variants by analyzing blood and formalin-fixed paraffin-embedded (FFPE) tissue samples, utilizing next-generation sequencing techniques. Methods: We investigated five cases of SUDEP that were examined at the Legal Medicine department of Ancona (Italy). Peripheral blood or FFPE cardiac tissues were collected, and different DNA extraction methods were performed. In particular, this study underlines a new extraction method from FFPE tissue, adapting the Casework kit for forensic application to our purpose. Later, about one hundred genes correlated to inherited cardiac diseases were sequenced through the Ion PGM System and Ion GeneStudio S5 Systems. Results: Bioinformatic analysis showed some genetic variants of unknown significance (VUS) on genes involved in SUDEP: RYR2, SCN8A, and AKAP9. Conclusions: As expected, very low coverage of the target base was observed for FFPE tissue samples because of the complexity of the biological material. Therefore, the presence of any significant variants in unamplified regions cannot be excluded in the FFPE samples. As suggested by the literature, the variants found in the blood samples are potentially associated with SUDEP.
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X-chromosomal STRs: Metapopulations and mutation rates
Anno: 2025
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M. A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.; Barletta-Carrillo, C.; Berardi, G.; Bobillo, C.; Borjas, L.; Braganholi, D. F.; Brehm, A.; Builes, J. J.; Cainé, L.; Carvalho, E. F.; Carvalho, M.; Catelli, L.; Cicarelli, R. M. B.; Contreras, A.; Corach, D.; Di Marco, F. G.; Diederiche, M. V.; Domingues, P.; Espinoza, M.; Fernandéz, J. M.; García, M. G.; García, O.; Gaviria, A.; Gomes, I.; Grattapaglia, D.; Henao, J.; Hernandez, A.; Ibarra, A. A.; Lima, G.; Manterola, I. M.; Marrero, C.; Martins, J. A.; Mendoza, L.; Mosquera, A.; Nascimento, E. C.; Onofri, V.; Pancorbo, M. M.; Pestano, J. J.; Plaza, G.; Porto, M. J.; Posada, Y. C.; Rebelo, M. L.; Riego, E.; Rodenbusch, R.; Rodríguez, A.; Rodríguez, A.; Sanchez-Diz, P.; Santos, S.; Simão, F.; Siza Fuentes, L. M.; Sumita, D.; Tomas, C.; Toscanini, U.; Trindade-Filho, A.; Turchi, C.; Vullo, C.; Yurrebaso, I.; Pereira, V.; Pinto, N.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/350932
Citazioni:
X-chromosomal STRs: Metapopulations and mutation rates / Gusmão, L., Antão-Sousa, S., Faustino, M., Abovich, M.A., Aguirre, D., Alghafri, R., Alves, C., Amorim, A., Arévalo, C., Baldassarri, L., Barletta-Carrillo, C., Berardi, G., Bobillo, C., Borjas, L., Braganholi, D.F., Brehm, A., Builes, J.J., Cainé, L., Carvalho, E.F., Carvalho, M., et al.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 76:(2025). [10.1016/j.fsigen.2025.103232]
Abstract:
The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of ...data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10−4 (DXS7133) and 1.07x10−2 (DXS10135), being 5.2 times higher in the male (4.16 ×10−3) than in the female (8.01 ×10−4) germline.
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The Survival of the Kiss: Presence and Persistence of Salivary Male DNA in Mixed Samples
Anno: 2025
Rivista: GENES
Autori/autrici: Pesaresi, Mauro; Alessandrini, Federica; Bignozzi, Elena; Bernini Di Michele, Alessia; Melchionda, Filomena; Gesuita, Rosaria; Onofri, Valerio; Turchi, Chiara
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/349294
Citazioni:
The Survival of the Kiss: Presence and Persistence of Salivary Male DNA in Mixed Samples / Pesaresi, M., Alessandrini, F., Bignozzi, E., Bernini Di Michele, A., Melchionda, F., Gesuita, R., Onofri, V., Turchi, C.. - In: GENES. - ISSN 2073-4425. - 16:2(2025). [10.3390/genes16020232]
Abstract:
Background/Objectives: The study of DNA transfer and persistence has become increasingly significant, driven by advancements in DNA detection sensitivity and the need for reliable forensic evidence. In forensic investigations, saliva and saliva-stained materials are recognised as valuable DNA source...s, particularly in cases of homicide, sexual assault, and burglary, where saliva can be transferred between individuals during the criminal act. The time between the crime and sample collection is a critical factor that can influence the success of the analysis. The value of the specimens collected from the victim’s skin or mouth (perilabial and labial sites, teeth and tongue) after the crime has not been investigated with currently used highly sensitive and specific molecular methods. Methods: On the assumption that a significant loss of DNA occurred, in our study, 10 voluntary pairs were tested at different time points after intense kissing and samples were taken from the above-mentioned sites to assess the presence of the donor’s DNA. Extracted DNA was quantified using the Plexor HY System kit (Promega), and both autosomal STRs and Y-STRs were analysed. Results: The results reveal a greater persistence of male DNA on the female partner, particularly in the labial and perilabial regions, even up to 120 min after contact, in terms of both concentration and duration. Conclusions: This study emphasises the forensic importance of salivary DNA as a solid source of evidence, particularly in investigations involving mixed DNA profiles.
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Developmental validation of a multiplex qPCR assay for simultaneous quantification of nuclear and mitochondrial DNA
Anno: 2025
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Melchionda, Filomena; Pesaresi, Mauro; Alessandrini, Federica; Onofri, Valerio; Turchi, Chiara
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/337833
Citazioni:
Developmental validation of a multiplex qPCR assay for simultaneous quantification of nuclear and mitochondrial DNA / Melchionda, F., Pesaresi, M., Alessandrini, F., Onofri, V., Turchi, C.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 74:(2025). [10.1016/j.fsigen.2024.103164]
Abstract:
Quantification of human DNA is key in forensic genetics. A more accurate estimate of the amount of DNA is essential for planning and optimising genotyping assays, as is evaluating the presence of PCR inhibitory substances and DNA degradation status. Multiplex qPCR assays are helpful in forensics bec...ause they can quantify different targets simultaneously, thus saving valuable samples, time, and labour. The aim of this study was to highlight the challenges in the developmental validation of a multiplex real-time PCR assay and the drawbacks encountered in translating a previously described and validated assay (SD quants) to a different technology by modifying the dye probes and reagent mix to be used in a different instrument. We developed a TaqMan probebased multiplex qPCR using reagents and fluorescent probes adapted for the Rotor-Gene 6000 instrument (QIAGEN, Hilden, Germany). The initial assay combined two mitochondrial DNA (mtDNA) and two nuclear DNA (nDNA) targets, with amplification products of different sizes (mtDNA = 69 and 143 bp; nDNA = 71 and 181 bp), to estimate the DNA degradation status and an internal positive control (IPC) to detect potential inhibitors. During the initial testing of the assay, we observed an interaction between the 69 bp mtDNA target and the 71 bp nDNA target probe, and experiments were conducted to resolve this issue without success. We removed the small nDNA target (71 bp) and changed from a 5-plex to a 4-plex qPCR assay (qMIND). The final tetraplex assay was tested on 105 forensic samples and/or small amounts of degraded DNA, such as bones, teeth, fingernails, formalin-fixed paraffin-embedded tissues (FFPE), and hair shaft samples. The quantification results were compared with data acquired from the same samples using another commercially available quantification system commonly used in forensic laboratories. In addition, the short tandem repeat (STR) profiles were investigated to determine their correlation with the quantitative values obtained. Overall, the qPCR assay was robust and reliable for DNA quantification in samples commonly used in forensic practice.
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Molecular Identification of the Italian Soldiers Found in the Second World War Mass Grave of Ossero
Anno: 2025
Rivista: GENES
Autori/autrici: Di Stefano, Barbara; Bertoglio, Barbara; Melchionda, Filomena; Concato, Monica; Sorçaburu Ciglieri, Solange; Bosetti, Alessandro; Grignani, Pierangela; Azzalini, Eros; Addoum, Yasmine; Vetrini, Raffaella; Gentile, Fabiano; Introna, Francesco; Bonin, Serena; Turchi, Chiara; Previderè, Carlo; Fattorini, Paolo
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/349912
Citazioni:
Molecular Identification of the Italian Soldiers Found in the Second World War Mass Grave of Ossero / Di Stefano, B., Bertoglio, B., Melchionda, F., Concato, M., Sorçaburu Ciglieri, S., Bosetti, A., Grignani, P., Azzalini, E., Addoum, Y., Vetrini, R., Gentile, F., Introna, F., Bonin, S., Turchi, C., Previderè, C., Fattorini, P.. - In: GENES. - ISSN 2073-4425. - 16:3(2025). [10.3390/genes16030326]
Abstract:
Background/objectives: DNA analysis is the most reliable method for the identification of human skeletal remains, especially the ones found in mass disasters or recovered from mass graves. To this aim, DNA was extracted from bones and teeth allegedly belonging to 27 Italian soldiers executed during ...the Second World War and exhumed from a mass grave in Ossero (Croatia). Methods: A selection of 131 different bone samples (petrous bones, femurs, metacarpal, and metatarsal bones) and 16 molar teeth were used for DNA extraction. Autosomal and Y-chromosome STR profiles were determined using a conventional CE approach, while a panel of 76 microhaplotypes was investigated through MPS. Results: Overall, 24 different autosomal consensus male profiles and six (unexpected) female profiles were identified; the male profiles were then compared with 21 alleged living relatives of the missing soldiers belonging to 14 unrelated Italian families. The DVI module of the Familias software was used for computing the LRs and the posterior probabilities (PP). The combination of autosomal STRs and microhaplotypes led to the identification of six victims and to a very likely identification of another one, supported by Y-haplotype sharing between victim and relative. Three distant victim–relative relationships resulting in low LR values for the autosomal markers showed Y-STR haplotype-sharing patterns, thus suggesting very strong support for a paternal relationship. Conclusions: The results of this study confirmed the effectiveness of the genetic approach and highlighted the presence of more individuals than expected in the mass grave, among which six were female subjects.
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MicroRNAs as diagnostic biomarkers in cardiovascular diseases that cause sudden cardiac death: comparison between methods used in discovery and validation phases in major research studies
Anno: 2024
Rivista: MINERVA FORENSIC MEDICINE
Autori/autrici: BERNINI DI MICHELE, Alessia; Onofri, Valerio; Melchionda, Filomena; Alessandrini, Federica; Ciarimboli, Eleonora; Fiordelmondo, Lucia; Turchi, Chiara; Pesaresi, Mauro
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/337575
Citazioni:
MicroRNAs as diagnostic biomarkers in cardiovascular diseases that cause sudden cardiac death: comparison between methods used in discovery and validation phases in major research studies / BERNINI DI MICHELE, A., Onofri, V., Melchionda, F., Alessandrini, F., Ciarimboli, E., Fiordelmondo, L., Turchi, C., Pesaresi, M.. - In: MINERVA FORENSIC MEDICINE. - ISSN 2784-8922. - 144:2(2024), pp. 90-99. [10.23736/s2784-8922.24.01873-9]
Abstract:
INTRODUCTION: MicroRNAs (miRNAs) are a non-coding RNA class of about 22 nucleotides that regulate gene expression by complementarily binding the 3’-untraslated regions of mRNA; thus, causing the inhibition of translation or mRNA degradation. A different expression profile of miRNAs (upregulate...d or downregulated) could lead to an imbalance in gene expression. EVIDENCE ACQUISITION: In recent years, many studies have focused on miRNAs and their role as biomarkers in diseases with difficult and inconclusive diagnoses. One of the most challenging diagnoses in the forensic field is sudden cardiac death (SCD) diagnosis which still has no comprehensive answers to the causes that determine the death of an apparently healthy subject. EVIDENCE SYNTHESIS: Thus, it could be interesting to study new biomarkers in genetic tests such as miRNAs. We have collected the most interesting studies in literature, focusing on the quantification methods used for the detection and validation of miRNAs with a potential role as biomarkers in arrhythmogenic cardiomyopathy, one of the most frequent pathological causes of SCD. CONCLUSIONS: In this review we will discuss the scientific logical path that starts from a discovery phase, using screening methods to select a group of differentially expressed miRNAs, up to a validation phase, which selects only informative miRNAs with a potential role as biomarkers.
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Sudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved?
Anno: 2024
Rivista: GENES
Autori/autrici: Pesaresi, Mauro; Bernini Di Michele, Alessia; Melchionda, Filomena; Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/337573
Citazioni:
Sudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved? / Pesaresi, M., Bernini Di Michele, A., Melchionda, F., Onofri, V., Alessandrini, F., Turchi, C.. - In: GENES. - ISSN 2073-4425. - 15:10(2024). [10.3390/genes15101272]
Abstract:
Background and objectives: Sudden cardiac death (SCD) is a natural and unexpected death of cardiac origin that occurs within 1 h from the onset of acute symptoms. The major leading causes of SCD are cardiomyopathies and channelopathies. In this review, we focus on channelopathies, inherited diseases... caused by mutations affecting genes encoding membrane ion channels (sodium, potassium or calcium channels) or cellular structures that affect Ca2+ availability. The diagnosis of diseases such as long QT, Brugada syndrome, short QT and catecholaminergic polymorphic ventricular tachycardia (CPVT) is still challenging. Currently, genetic testing and next-generation sequencing allow us to identify many rare alterations. However, some non-coding variants, e.g., splice-site variants, are usually difficult to interpret and to classify. Methods: In our review, we searched for splice-site variants of genes involved in channelopathies, focusing on variants of unknown significance (VUSs) registered on ClinVar up to now. Results: The research led to a high number of splice-site VUSs of genes involved in channelopathies, suggesting the performance of deeper studies. Conclusions: In order to interpret the correlation between variants and pathologies, we discuss experimental studies, such as RNA sequencing and functional analysis of proteins. Unfortunately, as these in vitro analyses cannot always be performed, we draw attention to in silico studies as future perspectives in genetics. This review has the aim of discussing the potential methods of detection and interpretation of VUSs, bringing out the need for a future reclassification of variants with currently unknown significance.
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The Role of miRNA Expression Profile in Sudden Cardiac Death Cases
Anno: 2023
Rivista: GENES
Autori/autrici: Bernini Di Michele, Alessia; Onofri, Valerio; Pesaresi, Mauro; Turchi, Chiara
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/324792
Citazioni:
The Role of miRNA Expression Profile in Sudden Cardiac Death Cases / Bernini Di Michele, A., Onofri, V., Pesaresi, M., Turchi, C.. - In: GENES. - ISSN 2073-4425. - 14:10(2023). [10.3390/genes14101954]
Abstract:
Sudden cardiac death (SCD) is one of the leading causes of death in the world and for this reason it has attracted the attention of numerous researchers in the field of legal medicine. It is not easy to determine the cause in a SCD case and the available methods used for diagnosis cannot always give... an exhaustive answer. In addition, the molecular analysis of genes does not lead to a clear conclusion, but it could be interesting to focus attention on the expression level of miRNAs, a class of non-coding RNA of about 22 nucleotides. The role of miRNAs is to regulate the gene expression through complementary binding to 3 '-untraslated regions of miRNAs, leading to the inhibition of translation or to mRNA degradation. In recent years, several studies were performed with the aim of exploring the use of these molecules as biomarkers for SCD cases, and to also distinguish the causes that lead to cardiac death. In this review, we summarize experiments, evidence, and results of different studies on the implication of miRNAs in SCD cases. We discuss the different biological starting materials with their respective advantages and disadvantages, studying miRNA expression on tissue (fresh-frozen tissue and FFPE tissue), circulating cell-free miRNAs in blood of patients affected by cardiac disease at high risk of SCD, and exosomal miRNAs analyzed from serum of people who died from SCD.
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Massive Parallel Sequencing in Forensic Genetics
Anno: 2022
Autori/autrici: Turchi, Chiara; Alessandrini, Federica; Onofri, Valerio
Lingua: ENG
Classificazione IRIS: 2.1 Contributo in volume (Capitolo o Saggio)
Scheda completa IRIS: https://iris.univpm.it/handle/11566/337832
Citazioni:
Massive Parallel Sequencing in Forensic Genetics / Turchi, C., Alessandrini, F., Onofri, V.. - 3:(2022), pp. 474-484. [10.1016/b978-0-12-823677-2.00094-5]
Abstract:
The introduction of Massive Parallel Sequencing technology (MPS) in the forensic genetics field has opened new possibilities in forensic DNA genotyping. The advantage of MPS is multifold, including: high throughput sequencing; production of millions of DNA molecules in parallel; simultaneous analysi...s of large number of markers; as well as different type of markers; and a high number of sample in a single experimental run. Beside genotyping traditional forensic markers for identification, i.e., Short Tandem Repeat (STR), Single Nucleotide Polymorphism (SNP), and mitochondrial DNA (mtDNA), MPS offers the potential to genotype a new type of genetic marker, known as microhaplotypes. Moreover, MPS makes it possible to explore the potential of forensic DNA phenotyping and of the forensic transcriptomic. This article discusses different MPS approaches used in forensic, the applications in forensic field, and benefits and drawbacks are discussed.
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Pitfalls, challenges and caveats in whole mitochondrial genome sequencing from hair shafts by MPS: Where, when and how to address them
Anno: 2022
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Turchi, C.; Melchionda, F.; Alessandrini, F.; Onofri, V.; Pesaresi, M.; Buscemi, L.; Tagliabracci, A.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/308762
Citazioni:
Pitfalls, challenges and caveats in whole mitochondrial genome sequencing from hair shafts by MPS: Where, when and how to address them / Turchi, C., Melchionda, F., Alessandrini, F., Onofri, V., Pesaresi, M., Buscemi, L., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2022). [10.1016/j.fsigss.2022.10.041]
Abstract:
The growing use of massively parallel sequencing (MPS) for the whole mitochondrial genome analysis in forensic laboratories, requires the establishment of efficient workflows and interpretation procedures, to support the feasibility of the technology and the reliability of the data. In the case of ...reference samples, such as blood and buccal swabs, the generation of mtDNA profiles by using MPS is relatively simple. Conversely, many forensic casework samples still pose challenges for the MPS, data interpretation and reporting of mtDNA. This is especially true for the analysis of shed hairs, which are one of the most common evidence types and which are among the most limited in terms of DNA quantity and quality. Due to these limitations, every step involved in the analysis become essentials and should be performed in order to obtain the best performance, optimizing the outcomes and minimizing the errors. In light of this, we present a study focusing on the extraction, quantification and MPS of the whole mtDNA in hair shafts, with the aims of set-up and validate a methodological pipeline to obtain the best sequencing results. The overall performance of the MPS panel, mainly in terms of total coverage, amplicons coverage and different primer pools efficiency, was evaluated also in relation to the different hair fragments, the mtDNA copy number used for libraries preparation and its degradation state.
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Paternal half-sisters or unrelated – How can the X-chromosomal evidence be quantified when one female presents trisomy X?
Anno: 2022
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Faustino, M.; Turchi, C.; Kling, D.; Gusmao, L.; Amorim, A.; Pinto, N.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/308761
Citazioni:
Paternal half-sisters or unrelated – How can the X-chromosomal evidence be quantified when one female presents trisomy X? / Faustino, M., Turchi, C., Kling, D., Gusmao, L., Amorim, A., Pinto, N.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2022). [10.1016/j.fsigss.2022.10.011]
Abstract:
The X chromosome has unique features, such as haplodiploid mode of genetic transmission, which can be crucial to complement autosomal profiling or to disentangle complex kinship problems. Indeed, for some cases (e.g. full- or paternal half-sisters, or paternal grandmother-granddaughter hypotheses), ...X-markers are expected to provide a similar or a higher power to the one obtained with autosomes in paternity/maternity investigations. Both theoretical and informatics frameworks for pairwise X-linked kinship analyses are well established for individuals with a regular number of chromosomes, but these are still lacking for individuals exhibiting an X chromosome aneuploidy, such as females with Triple X (47, XXX) syndrome. Indeed, this work was motivated by a real forensic case involving the evaluation with X-chromosomal markers of the hypotheses that two women were related either as paternal half-sisters or as unrelated, one of them showing a trisomy X. In this case, the analysis of X-chromosomal markers would yield stronger results than autosomes, as females had to share at least one identical allele in each analyzed X chromosome marker under the paternal half-sibling hypothesis, unless a mutation occurs. To fulfill this gap, we present in this work algebraic formulae for some genotypic configurations, which will allow quantification of the evidence on the referred cases. A general approach, comprising other X chromosome aneuploidies, kinship hypotheses, and genotypic configurations, is currently being developed by us. This work is the starting point to analyze X-chromosomal data under the scope of kinship problems, involving individuals with aneuploidies. This will improve the quantification of DNA evidence not only in forensic casework, but also in the field of medical genetics, whenever individuals with X-chromosomal aneuploidies are involved.
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Phylogeography and genomic epidemiology of SARS-CoV-2 in Italy and Europe with newly characterized Italian genomes between February-June 2020
Anno: 2022
Rivista: SCIENTIFIC REPORTS
Autori/autrici: Lai, A.; Bergna, A.; Toppo, S.; Morganti, M.; Menzo, S.; Ghisetti, V.; Bruzzone, B.; Codeluppi, M.; Fiore, V.; Rullo, E. V.; Antonelli, G.; Sarmati, L.; Brindicci, G.; Callegaro, A.; Sagnelli, C.; Francisci, D.; Vicenti, I.; Miola, A.; Tonon, G.; Cirillo, D.; Menozzi, I.; Caucci, S.; Cerutti, F.; Orsi, A.; Schiavo, R.; Babudieri, S.; Nunnari, G.; Mastroianni, C. M.; Andreoni, M.; Monno, L.; Guarneri, D.; Coppola, N.; Crisanti, A.; Galli, M.; Zehender, G.; Balotta, C.; Ventura, C.; Schiuma, M.; Lavezzo, E.; Fontana, P.; Bianco, L.; Bertolotti, L.; Manuto, L.; Grazioli, M.; Bianca, F.; Del Vecchio, C.; Franchin, E.; Onelia, F.; Spitaleri, A.; Saluzzo, F.; Lorenzin, G.; Pongolini, S.; Scaltriti, E.; Soliani, L.; Bagnarelli, P.; Turchi, C.; Onofri, V.; Melchionda, F.; Tagliabracci, A.; Burdino, E.; Milia, M. G.; Caligiuri, P.; De Pace, V.; Ricucci, V.; Domnich, A.; Boccotti, S.; Cristina, L. M.; Cascio, G. L.; Rubino, S.; Lai, V.; Rocca, G.; Govoni, R.; Mancuso, G.; Campagna, R.; Mazzuti, L.; Oliveto, G.; Turriziani, O.; Campogiani, L.; Compagno, M.; Coppola, L.; Crea, A. M. A.; De Simone, G.; Di Lorenzo, A.; Ferrari, L.; Iannetta, M.; Malagnino, V.; Mulas, T.; Rossi, B.; Spalliera, I.; Tedde, S.; Teti, E.; Vitale, P.; Zordan, M.; Milano, E.; Lagioia, A.; Gallitelli, R.; Starace, M.; Minichini, C.; Di Fraia, A.; Schioppa, M.; Greco, R.; Gidari, A.; Zazzi, M.; Dragoni, F.; Puma, L. L.; Ronchiadin, S.; Ruggerone, L.; Russignaga, D.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/308764
Citazioni:
Phylogeography and genomic epidemiology of SARS-CoV-2 in Italy and Europe with newly characterized Italian genomes between February-June 2020 / Lai, A., Bergna, A., Toppo, S., Morganti, M., Menzo, S., Ghisetti, V., Bruzzone, B., Codeluppi, M., Fiore, V., Rullo, E.V., Antonelli, G., Sarmati, L., Brindicci, G., Callegaro, A., Sagnelli, C., Francisci, D., Vicenti, I., Miola, A., Tonon, G., Cirillo, D., et al.. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 12:1(2022). [10.1038/s41598-022-09738-0]
Abstract:
The aims of this study were to characterize new SARS-CoV-2 genomes sampled all over Italy and to reconstruct the origin and the evolutionary dynamics in Italy and Europe between February and June 2020. The cluster analysis showed only small clusters including < 80 Italian isolates, while most of ...the Italian strains were intermixed in the whole tree. Pure Italian clusters were observed mainly after the lockdown and distancing measures were adopted. Lineage B and B.1 spread between late January and early February 2020, from China to Veneto and Lombardy, respectively. Lineage B.1.1 (20B) most probably evolved within Italy and spread from central to south Italian regions, and to European countries. The lineage B.1.1.1 (20D) developed most probably in other European countries entering Italy only in the second half of March and remained localized in Piedmont until June 2020. In conclusion, within the limitations of phylogeographical reconstruction, the estimated ancestral scenario suggests an important role of China and Italy in the widespread diffusion of the D614G variant in Europe in the early phase of the pandemic and more dispersed exchanges involving several European countries from the second half of March 2020.
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Development and Validation of MPS-Based System for Human Appearance Prediction in Challenging Forensic Samples
Anno: 2022
Rivista: GENES
Autori/autrici: Melchionda, F.; Silvestrini, B.; Robino, C.; Bini, C.; Fattorini, P.; Martinez-Labarga, C.; De Angelis, F.; Tagliabracci, A.; Turchi, C.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/308763
Citazioni:
Development and Validation of MPS-Based System for Human Appearance Prediction in Challenging Forensic Samples / Melchionda, F., Silvestrini, B., Robino, C., Bini, C., Fattorini, P., Martinez-Labarga, C., De Angelis, F., Tagliabracci, A., Turchi, C.. - In: GENES. - ISSN 2073-4425. - 13:10(2022). [10.3390/genes13101688]
Abstract:
Forensic DNA phenotyping (FDP) provides the ability to predict the human external traits from unknown sample donors, directly from minute amounts of DNA found at the crime scene. We developed a MPS multiplex assay, with the aim of genotyping all 41 DNA markers included in the HIrisPlex-S system for ...simultaneous prediction of eye, hair and skin colours. Forensic samples such as blood, skeletal remains, touch DNA, saliva swab, artificially degraded samples together with individuals with known phenotypes and a set of 2800 M control DNA were sequenced on the Ion Torrent platform in order to evaluate the concordance testing results and the forensic suitability of the 41-plex MPS assay. The panel was evaluated by testing a different number of PCR cycles and the volume of reagents for library preparation. The study demonstrated that full and reliable profiles were obtained with 0.1–5 ng, even with high degraded DNA. The increment of the number of PCR cycles results in an improvement of correctly genotyping and phenotyping for samples with low amounts of degraded DNA but higher frequencies of artefacts were found. The high DNA degradation level did not influence the correct genotyping and phenotyping and the critical parameter affecting the result is the quantity of input DNA. Eye and hair colour was predicted in 92.60% of individuals and skin colour in 85.15% of individuals. The results suggest that this MPS assay is robust, highly sensitive and useful for human pigmentation prediction in the forensic genetic field.
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Circulating SARS-CoV-2 variants in Italy, October 2020–March 2021
Anno: 2021
Rivista: VIROLOGY JOURNAL
Autori/autrici: Lai, A.; Bergna, A.; Menzo, S.; Zehender, G.; Caucci, S.; Ghisetti, V.; Rizzo, F.; Maggi, F.; Cerutti, F.; Giurato, G.; Weisz, A.; Turchi, C.; Bruzzone, B.; Ceccherini Silberstein, F.; Clementi, N.; Callegaro, A.; Sagradi, F.; Francisci, D.; Venanzi Rullo, E.; Vicenti, I.; Clementi, M.; Galli, M.; Balotta, C.; Gori, M.; Bagnarelli, P.; Baj, A.; Novazzi, F.; Orsi, A.; Caligiuri, P.; Boccotti, S.; Bellocchi, M. C.; Sarmati, L.; Andreoni, M.; Mancini, N.; Criscuolo, E.; Gallitelli, R.; Testa, S.; Dragoni, F.; Zazzi, M.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/291802
Citazioni:
Circulating SARS-CoV-2 variants in Italy, October 2020–March 2021 / Lai, A., Bergna, A., Menzo, S., Zehender, G., Caucci, S., Ghisetti, V., Rizzo, F., Maggi, F., Cerutti, F., Giurato, G., Weisz, A., Turchi, C., Bruzzone, B., Ceccherini Silberstein, F., Clementi, N., Callegaro, A., Sagradi, F., Francisci, D., Venanzi Rullo, E., Vicenti, I., et al.. - In: VIROLOGY JOURNAL. - ISSN 1743-422X. - ELETTRONICO. - 18:1(2021), p. 168. [10.1186/s12985-021-01638-5]
Abstract:
A growing number of emerging SARS-CoV-2 variants is being identified worldwide, potentially impacting the effectiveness of current vaccines. We report the data obtained in several Italian regions involved in the SARS-CoV-2 variant monitoring from the beginning of the epidemic and spanning the period... from October 2020 to March 2021.
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Death following extreme temperature exposure: Histological, biochemical and immunohistochemical markers
Anno: 2021
Rivista: MEDICINE, SCIENCE AND THE LAW
Autori/autrici: Natanti, A.; Mazzanti, R.; Palpacelli, M.; Turchi, C.; Tagliabracci, A.; Pesaresi, M.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/289789
Citazioni:
Death following extreme temperature exposure: Histological, biochemical and immunohistochemical markers / Natanti, A., Mazzanti, R., Palpacelli, M., Turchi, C., Tagliabracci, A., Pesaresi, M.. - In: MEDICINE, SCIENCE AND THE LAW. - ISSN 0025-8024. - 61:1(2021), pp. 36-41. [10.1177/0025802420942423]
Abstract:
Introduction: Defining extreme temperatures as the cause of death remains challenging. It is mostly based on circumstantial, macroscopic and microscopic features. Methods: We retrospectively compared groups of cases of fatal hypothermia, fatal hyperthermia and non-extreme temperature-related deaths.... We analysed specific histological findings, focusing on samples from the liver, pancreas and kidney. Results: Between 1 January 2013 and 31 December 2016, 15 autopsies were performed for deaths related to extreme temperatures. They included 11 cases of fatal hypothermia (group A), four cases of fatal hyperthermia (group B) and eight controls (group C). Perinuclear hepatocyte vacuolisation was observed in seven cases of hypothermia, one case of hyperthermia and four controls. Pancreatic cytoarchitecture was well preserved in two cases of hypothermia, one case of hyperthermia and two controls. No particular microscopic feature was found in pancreatic samples. Renal epithelial tubular cell vacuolisation was observed in seven cases of hypothermia and one case of hyperthermia, while it was absent in all controls. Chromogranin A (CgA) was markedly positive in the pancreatic tissue of five cases of fatal hypothermia and one control, and mildly positive in one case of fatal hyperthermia. No significant p-values were observed for any comparisons (p > 0.05), except when hypothermia cases group were compared to the control group for the Armanni–Ebstein phenomenon test (p = 0.0078). Conclusions: Although our study did not find a specific microscopic marker, hepatocyte vacuolisation, the Armanni–Ebstein phenomenon and pancreatic CgA positivity, taken together, may be useful tools to confirm hypo- and hyperthermia-related deaths, in addition to circumstantial and macroscopic findings.
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MtDNA exploitation in forensics
Anno: 2020
Autori/autrici: Turchi, Chiara; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 2.1 Contributo in volume (Capitolo o Saggio)
Scheda completa IRIS: https://iris.univpm.it/handle/11566/286670
Citazioni:
MtDNA exploitation in forensics / Turchi, C., Tagliabracci, A.. - (2020).

Past, Present and Future in Forensic Human Identification
Anno: 2020
Autori/autrici: Alessandrini, Federica; Onofri, Valerio; Turchi, Chiara; Buscemi, Loredana; Pesaresi, Mauro; Tagliabracci, Adriano
Classificazione IRIS: 2.1 Contributo in volume (Capitolo o Saggio)
Scheda completa IRIS: https://iris.univpm.it/handle/11566/277830
Citazioni:
Past, Present and Future in Forensic Human Identification / Alessandrini, F., Onofri, V., Turchi, C., Buscemi, L., Pesaresi, M., Tagliabracci, A.. - (2020), pp. 81-92. [10.1007/978-3-030-33832-9_7]

Searching the undetected mtDNA variants in forensic MPS data
Anno: 2020
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Melchionda, F.; Stanciu, F.; Buscemi, L.; Pesaresi, M.; Tagliabracci, A.; Turchi, C.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/284406
Citazioni:
Searching the undetected mtDNA variants in forensic MPS data / Melchionda, F., Stanciu, F., Buscemi, L., Pesaresi, M., Tagliabracci, A., Turchi, C.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 49:(2020). [10.1016/j.fsigen.2020.102399]
Abstract:
The efficiency of MPS in forensic mtDNA analysis has been thoroughly proven, although a reliable and well established data evaluation still remains a critical point. Numerous bioinformatics tools have been developed, but most of them require specific operating systems and high costs, while free open...-source programs with user-friendly interfaces are few. In this study, 43 full mtGenomes were sequenced using the Ion Personal Genome Machine™ (PGM™) System and analyzed utilizing the plug-in Variant Caller (TVC) of the Ion Torrent Software Suite and the mtDNA-Server (mDS), a free web-based mitochondrial analysis tool for MPS data. The outcomes of these two different analysis tools were compared to variants noted after manual inspection of the aligned reads performed using Integrative Genomics Viewer (IGV). The comparison highlighted the presence of thirty-nine discordant variant calls, which were resolved by Sanger sequencing that confirmed the presence of all variants, except for 7 deletions. The combined adoption of IGV and Sanger type sequencing confirmatory steps, in addition of TVC and mDS analysis, resulted in a more accurate variants assignment with the detection of 32 additional true polymorphisms, which were noted in the final dataset. Regarding the heteroplasmy issue, out of a total of thirty heteroplasmic variants, twenty-eight were detected by the TVC, while the mDS detected twenty-two. Overall, none of the used bioinformatics tools were the perfect choice and a secondary analysis with an expert's opinion in complete mtGenome MPS data evaluation is still required in forensic genetic analysis.
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Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020
Anno: 2020
Rivista: EUROSURVEILLANCE
Autori/autrici: E., Alm; E. K., Broberg; T., Connor; E. B., Hodcroft; A. B., Komissarov; S., Maurer-Stroh; A., Melidou; R. A., Neher; A., O'Toole; Niko Beerenwinkel, Pereyaslov D.; Posada-Céspedes, Susana; Philipp Jablonski, Kim; Falé Ferreira, Pedro; Topolsky, Ivan; Avšič-Županc, Tatjana; Korva, Miša; Poljak, Mario; Zakotnik, Samo; Mark Zorec, Tomaž; Bragstad, Karoline; Hungnes, Olav; Stene-Johansen, Kathrine; Reusken, Chantal; Meijer, Adam; Vennema, Harry; Ruiz-Roldán, Lidia; Alma Bracho, María; García-González, Neris; Chiner-Oms, Álvaro; Cancino-Muñoz, Irving; Comas, Iñaki; A Goig, Galo; Torres-Puente, Manuela; G López, Mariana; Martínez-Priego, Llúcia; D'Auria, Giuseppe; Ferrús-Abad, Loreto; de Marco, Griselda; Galan-Vendrell, Inmaculada; Carbó-Ramirez, Sandra; Ruíz-Hueso, Paula; Coscollá, Mireia; Polackova, Katerina; Kramna, Lenka; Cinek, Ondrej; Richter, Jan; Krashias, George; Tryfonos, Christina; Bashiardes, Stavros; Koptides, Dana; Christodoulou, Christina; Bartolini, Barbara; Em Gruber, Cesare; Di Caro, Antonino; Castilletti, Concetta; Stefani, Fabrizio; Giordana Rimoldi, Sara; Romeri, Francesca; Salerno, Franco; Polesello, Stefano; Nagy, Alexander; Jirincova, Helena; Vecerova, Jaromira; Novakova, Ludmila; Cordey, Samuel; Murtskhvaladze, Marine; Kotaria, Nato; Schär, Tobias; Beisel, Christian; Vugrek, Oliver; Rokić, Filip; Trgovec-Greif, Lovro; Jurak, Igor; Rukavina, Tomislav; Sučić, Neven; Schønning, Kristian; M Karst, Søren; H Kirkegaard, Rasmus; Y Michaelsen, Thomas; Aa Sørensen, Emil; Knutson, Simon; Brandt, Jakob; Le-Quy, Vang; Sørensen, Trine; Petersen, Celine; Schou Pedersen, Martin; Løkkegaard Larsen, Sanne; Nielsine Skov, Marianne; Rasmussen, Morten; Fonager, Jannik; Fomsgaard, Anders; Amirovich Maksyutov, Rinat; Vasil'Evna Gavrilova, Elena; Victorovich Pyankov, Oleg; Alexandrovich Bodnev, Sergey; Vladimirovna Tregubchak, Tatyana; Nikolayevich Shvalov, Alexander; Victorovich Antonets, Denis; Cristina Resende, Paola; Goya, Stephanie; Perrin, Amandine; Tc Lee, Raphael; Yadahalli, Shilpa; X Han, Alvin; A Russell, Colin; Schmutz, Stefan; Zaheri, Maryam; Kufner, Verena; Huber, Michael; Trkola, Alexandra; Antwerpen, Markus; C Walter, Mathias; van der Werf, Sylvie; Gambaro, Fabiana; Behillil, Sylvie; Enouf, Vincent; Donati, Flora; Ustinova, Monta; Rovite, Vita; Klovins, Janis; Savicka, Oksana; K Wienecke-Baldacchino, Anke; Ragimbeau, Catherine; Fournier, Guillaume; Mossong, Joël; W Aberle, Stephan; Haukland, Mattias; Enkirch, Theresa; Advani, Abdolreza; Lind Karlberg, Maria; Karlsson Lindsjö, Oskar; Broddesson, Sandra; Sláviková, Monika; Ličková, Martina; Klempa, Boris; Staroňová, Edita; Tichá, Elena; Szemes, Tomáš; Rusňáková, Diana; Stadler, Tanja; Quer, Josep; Anton, Andres; Andres, Cristina; Piñana, Maria; Garcia-Cehic, Damir; Pumarola, Tomas; Izopet, Jacques; Gioula, Georgia; Exindari, Maria; Papa, Anna; Chatzidimitriou, Dimitrios; Metallidis, Symeon; Pappa, Stella; Macek Jr, Milan; Geryk, Jan; Brož, Petr; Briksí, Aleš; Hubáček, Petr; Dřevínek, Pavel; Zajac, Miroslav; Kvapil, Petr; Holub, Michal; Kvapilová, Kateřina; Novotný, Adam; Kašný, Martin; Klempt, Petr; Vapalahti, Olli; Smura, Teemu; Sironen, Tarja; Selhorst, Philippe; Anthony, Colin; Ariën, Kevin; Simon-Loriere, Etienne; Rabalski, Lukasz; Bienkowska-Szewczyk, Krystyna; Borges, Vítor; Isidro, Joana; Paulo Gomes, João; Guiomar, Raquel; Pechirra, Pedro; Costa, Inês; Duarte, Sílvia; Vieira, Luís; Pyrc, Krzysztof; S Zuckerman, Neta; Turdikulova, Shahlo; Abdullaev, Alisher; Dalimova, Dilbar; Abdurakhimov, Abror; Tagliabracci, Adriano; Alessandrini, Federica; Melchionda, Filomena; Onofri, Valerio; Turchi, Chiara; Bagnarelli, Patrizia; Menzo, Stefano; Caucci, Sara; DI SANTE, Laura; Popa, Alexandra; Genger, Jakob-Wendelin; Agerer, Benedikt; Lercher, Alexander; Endler, Lukas; Smyth, Mark; Penz, Thomas; Schuster, Michael; Senekowitsch, Martin; Laine, Jan; Bock, Christoph; Bergthaler, Andreas; Shevtsov, Alexandr; Kalendar, Ruslan; Ramanculov, Yerlan; Graf, Alexander; Muenchhoff, Maximilian; T Keppler, Oliver; Krebs, Stefan; Blum, Helmut; Marcello, Alessandro; Licastro, Danilo; D'Agaro, Pierlanfranco; Laubscher, Florian; Vidanovic, Dejan; Tesovic, Bojana; Volkening, Jeremy; Clementi, Nicola; Mancini, Nicasio; Rupnik, Maja; Mahnic, Aleksander; Walker, Andreas; Houwaart, Torsten; Wienemann, Tobias; Kohns Vasconcelos, Malte; Strelow, Daniel; Ole Jensen, Björn-Erik; Senff, Tina; Hülse, Lisanna; Adams, Ortwin; Andree, Marcel; Hauka, Sandra; Feldt, Torsten; Keitel, Verena; Kindgen-Milles, Detlef; Timm, Jörg; Pfeffer, Klaus; T Dilthey, Alexander; Moore, Catherine; Ozdarendeli, Aykut; Terkis Islam Pavel, Shaikh; Yetiskin, Hazel; Aydin, Gunsu; Holyavkin, Can; Ali Uygut, Muhammet; Cevik, Ceren; Shchetinin, Alexey; Gushchin, Vladimir; Dinler-Doganay, Gizem; Doganay, Levent; Kizilboga-Akgun, Tugba; Karacan, Ilker; Pancer, Katarzyna; Maes, Piet; Martí-Carreras, Joan; Wawina-Bokalanga, Tony; Vanmechelen, Bert; Thürmer, Andrea; Wedde, Marianne; Dürrwald, Ralf; Von Kleist, Max; Drechsel, Oliver; Wolff, Thorsten; Fuchs, Stephan; Kmiecinski, Rene; Michel, Janine; Nitsche, Andreas; Casas, Inmaculada; Iglesias Caballero, María; Zaballos, Ángel; Jiménez, Pilar; Jiménez, Mercedes; Monzón Fernández, Sara; Varona Fernández, Sarai; Cuesta De La Plaza, Isabel; Fadeev, Artem; Ivanova, Anna; Sergeeva, Mariia; Stefanelli, Paola; Estee Torok, M; Hall, Grant; da Silva Filipe, Ana; Turtle, Lance; Afifi, Safiah; Mccluggage, Kathryn; Beer, Robert; Ledesma, Juan; Maksimovic, Joshua; Spellman, Karla; L Hamilton, William; Marchbank, Angela; Alexander Southgate, Joel; Underwood, Anthony; Taylor, Ben; Yeats, Corin; Abudahab, Khalil; R Gemmell, Matthew; Eccles, Richard; Lucaci, Anita; Abigail Nelson, Charlotte; Rainbow, Lucille; Whitehead, Mark; Gregory, Richard; Haldenby, Sam; Paterson, Steve; A Hughes, Margaret; D Curran, Martin; Baker, David; Tucker, Rachel; R Green, Luke; Feltwell, Theresa; D Halstead, Fenella; Wyles, Matthew; S Jahun, Aminu; Y Ahmad, Shazaad S; Georgana, Iliana; Goodfellow, Ian; Yakovleva, Anna; W Meredith, Luke; Gavriil, Artemis; Raza Awan, Ali; Fisher, Chloe; Edgeworth, Jonathan; Lynch, Jessica; Moore, Nathan; Williams, Rebecca; P Kidd, Stephen; Cortes, Nicholas; Brunker, Kirstyn; T Mccrone, John; Quick, Joshua; Duckworth, Nichola; Walsh, Sarah; Sloan, Tim; Ludden, Catherine; P George, Ryan; Eltringham, Gary; R Brown, Julianne; Aranday-Cortes, Elihu; G Shepherd, James; Hughes, Joseph; K Li, Kathy; C Williams, Thomas; Johnson, Natasha; Jesudason, Natasha; Mair, Daniel; Thomson, Emma; Shah, Rajiv; A Parr, Yasmin; Carmichael, Stephen; L Robertson, David; Nomikou, Kyriaki; Broos, Alice; Niebel, Marc; Smollett, Katherine; Tong, Lily; Miah, Shahjahan; Wittner, Anita; Phillips, Nicole; Payne, Brendan; Dewar, Rebecca; Holmes, Alison; Bolt, Frances; R Price, James; Mookerjee, Siddharth; K Sethi, Dheeraj; Potter, Will; Stanley, Rachael; Prakash, Reenesh; Dervisevic, Samir; Clive Graham, Jonathan; Nelson, Andrew; Smith, Darren; R Young, Gregory; Chyin Yew, Wen; A Todd, John; Trebes, Amy; Andersson, Monique; Bull, Matthew; Watkins, Joanne; Birchley, Alec; Gatica-Wilcox, Bree; Gilbert, Lauren; Kumžiene-Summerhayes, Sara; Rey, Sara; Chauhan, Anoop; Butcher, Ethan; Bicknell, Kelly; Elliott, Scott; Glaysher, Sharon; Lackenby, Angie; Bibby, David; Platt, Steven; Mohamed, Hodan; William Machin, Nicholas; Lutamyo Mbisa, Jean; Evans, Jonathan; Perry, Malorie; Pacchiarini, Nicole; Corden, Sally; Geraint Adams, Alexander; Gaskin, Amy; Coombs, Jason; John Graham, Lee; Cottrell, Simon; Morgan, Mari; Gifford, Laura; Kolyva, Anastasia; John Rudder, Steven; J Trotter, Alexander; E Mather, Alison; Aydin, Alp; J Page, Andrew; L Kay, Gemma; de Oliveira Martins, Leonardo; Yasir, Muhammad; Alikhan, Nabil-Fareed; M Thomson, Nicholas; Gilroy, Rachel; A Kingsley, Robert; O'Grady, Justin; Victoria Gutierrez, Ana; Diaz, Maria; Le Viet, Thanh; P Tedim, Ana; M Adriaenssens, Evelien; Patrick Mcclure, C; Moore, Christopher; Sang, Fei; Clark, Gemma; C Howson-Wells, Hannah; Debebe, Johnny; Ball, Jonathan; Chappell, Joseph; Khakh, Manjinder; Carlile, Matthew; Loose, Matthew; M Lister, Michelle; Holmes, Nadine; Tsoleridis, Theocharis; M Fleming, Vicki; Wright, Victoria; Smith, Wendy; D Gallagher, Michael; Parker, Matthew; G Partridge, David; Evans, Cariad; Baker, Paul; Essex, Sarah; Liggett, Steven; J Keeley, Alexander; Bashton, Matthew; Rooke, Stefan; Dervisevic, Samir; Jane Meader, Emma; Enrique Balcazar Lopez, Carlos; Angyal, Adrienn; Kristiansen, Mark; J Tutill, Helena; Findlay, Jacqueline; Mestek-Boukhibar, Lamia; Forrest, Leysa; Dyal, Patricia; J Williams, Rachel; Panchbhaya, Yasmin; A Williams, Charlotte; Roy, Sunando; Pandey, Sarojini; Stockton, Jo; J Loman, Nicholas; Poplawski, Radoslaw; Nicholls, Samuel; M Rowe, W P; Khokhar, Fahad; Lars Pinckert, Malte; Hosmillo, Myra; Chaudhry, Yasmin; G Caller, Laura; K Davidson, Rose; Griffith, Luke; Rambaut, Andrew; Jackson, Ben; Colquhoun, Rachel; Hill, Verity; Nichols, Jenna; Asamaphan, Patawee; Darby, Alistair; A Jackson, Kathryn; Iturriza-Gomara, Miren; Edith Vamos, Ecaterina; Green, Angie; Aanensen, David; Bonsall, David; Buck, David; Macintyre-Cockett, George; de Cesare, Mariateresa; Pybus, Oliver; Golubchik, Tanya; Scarlett, Garry; F Loveson, Katie; C Robson, Samuel; Beckett, Angela; Lindsey, Benjamin; C Groves, Danielle; J Parsons, Paul; P Mchugh, Martin; Daniel Barnes, James; F Manso, Carmen; Grammatopoulos, Dimitris; Elisabeth Menger, Katja; Harrison, Ewan; Gunson, Rory; J Peacock, Sharon; Gonzalez, Gabriel; Carr, Michael; Mihaela, Lazar; Popovici, Odette; Brytting, Mia; Bresner, Catherine; Fuller, William; Workman, Trudy; F Mentis, Andreas; Kossyvakis, Athanasios; Karamitros, Timokratis; Pogka, Vasiliki; Kalliaropoulos, Antonios; Horefti, Elina; Kontou, Aspasia; Martinez-Gonzalez, Beatriz; Labropoulou, Voula; Voulgari-Kokota, Androniki; Evangelidou, Maria; Bizta, Panagiota; Belimezi, Maria; Lambrechts, Laurens; Z Doymaz, Mehmet; Kalkan Yazici, Merve; S Cetin, Nesibe; Karaaslan, Elif; Kallio-Kokko, Hannimari; Virtanen, Jenni; Suvanto, Maija; Truong Nguyen, Phuoc; Ellonen, Pekka; Hannula, Sari; Kangas, Harri; B Sreenu, Vattipally; Burián, Katalin; Terhes, Gabriella; Gombos, Katalin; Gyenesei, Attila; Urbán, Péter; Herczeg, Róbert; Jakab, Ferenc; Kemenesi, Gábor; Endre Tóth, Gábor; Somogyi, Balázs; Zana, Brigitta; Zeghbib, Safia; Kuczmog, Anett; Földes, Fanni; Lanszki, Zsófia; Madai, Mónika; Papp, Henrietta; Nagy, Ágnes; István Pereszlényi, Csaba; Csaba Babinszky, Gergely; Dudás, Gábor; Csoma, Eszter; N Abou Tayoun, Ahmad; A Alsheikh-Ali, Alawi; Loney, Tom; Nowotny, Norbert; Abdul-Wahab, Osama; Gonzalez-Candelas, Fernando; H Andersen, Martin; Sarah Taylor, And
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/283651
Citazioni:
Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020 / E., A., E. K., B., T., C., E. B., H., A. B., K., S., M., A., M., R. A., N., A., O., Niko Beerenwinkel, P.D., Posada-Céspedes, S., Philipp Jablonski, K., Falé Ferreira, P., Topolsky, I., Avšič-Županc, T., Korva, M., Poljak, M., Zakotnik, S., Mark Zorec, T., Bragstad, K., et al.. - In: EUROSURVEILLANCE. - ISSN 1560-7917. - 25:32(2020). [10.2807/1560-7917.ES.2020.25.32.2001410]
Abstract:
We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence data from the World Health Organization Europea...n Region available until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation, compare the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2.
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Molecular tracing of SARS-CoV-2 in Italy in the first three months of the epidemic
Anno: 2020
Rivista: VIRUSES
Autori/autrici: Lai, A.; Bergna, A.; Caucci, S.; Clementi, N.; Vicenti, I.; Dragoni, F.; Cattelan, A. M.; Menzo, S.; Pan, A.; Callegaro, A.; Tagliabracci, A.; Caruso, A.; Caccuri, F.; Ronchiadin, S.; Balotta, C.; Zazzi, M.; Vaccher, E.; Clementi, M.; Galli, M.; Zehender, G.; Alessandrini, F; Andreoni, M; Antonelli, G; Babudieri, S; Bagnarelli, P; Bonora, S; Bruzzone, B; Brindicci, G; Carrer, P; Ceccherini, F; Codeluppi, M; Coluccello, A; Coppola, N; Cusi, Mg; C Della Ventura, ; DI SANTE, Laura; S Di Giambenedetto, ; G Di Perri, ; Fiore, V; Fiorentini, S; Francisci, D; Gandolfo, C; Gervasoni, C; Ghisetti, V; Greco, R; Guarona, G; Iannetta, M; L Li Puma, ; Malagnino, V.; Mancuso, G; Mastroianni, C; Menozzi, I; Milano, E; Miola, A; Morganti, M; Monno, L; Noberasco, G; Nunnari, G; Onofri, V; Orsi, A; Pierfranceschi, Mg; Pongolini, S; Ripamonti, D; Rubino, S; Ruggerone, L; Russignaga, D; Sagnelli, C; Sanguinetti, M; Sarmati, L; Sasset, L; Scaltriti, E; Schiavo, R; Schioppa, M; Testa, S; Turchi, C; Turriziani, O; E Venanzi Rollo, ; Zanussi, S; Zoncada, A
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/283713
Citazioni:
Molecular tracing of SARS-CoV-2 in Italy in the first three months of the epidemic / Lai, A., Bergna, A., Caucci, S., Clementi, N., Vicenti, I., Dragoni, F., Cattelan, A.M., Menzo, S., Pan, A., Callegaro, A., Tagliabracci, A., Caruso, A., Caccuri, F., Ronchiadin, S., Balotta, C., Zazzi, M., Vaccher, E., Clementi, M., Galli, M., Zehender, G., et al.. - In: VIRUSES. - ISSN 1999-4915. - 12:8(2020). [10.3390/v12080798]
Abstract:
The aim of this study is the characterization and genomic tracing by phylogenetic analyses of 59 new SARS-CoV-2 Italian isolates obtained from patients attending clinical centres in North and Central Italy until the end of April 2020. All but one of the newly-characterized genomes belonged to the li...neage B.1, the most frequently identified in European countries, including Italy. Only a single sequence was found to belong to lineage B. A mean of 6 nucleotide substitutions per viral genome was observed, without significant differences between synonymous and non-synonymous mutations, indicating genetic drift as a major source for virus evolution. tMRCA estimation confirmed the probable origin of the epidemic between the end of January and the beginning of February with a rapid increase in the number of infections between the end of February and mid-March. Since early February, an effective reproduction number (Re) greater than 1 was estimated, which then increased reaching the peak of 2.3 in early March, confirming the circulation of the virus before the first COVID-19 cases were documented. Continuous use of state-of-the-art methods for molecular surveillance is warranted to trace virus circulation and evolution and inform effective prevention and containment of future SARS-CoV-2 outbreaks.
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Assessment of the Precision ID Identity Panel kit on challenging forensic samples
Anno: 2020
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Turchi, C.; Previdere, C.; Bini, C.; Carnevali, E.; Grignani, P.; Manfredi, A.; Melchionda, F.; Onofri, V.; Pelotti, S.; Robino, C.; Sorcaburu-Ciglieri, S.; Tagliabracci, A.; Fattorini, P.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/286669
Citazioni:
Assessment of the Precision ID Identity Panel kit on challenging forensic samples / Turchi, C., Previdere, C., Bini, C., Carnevali, E., Grignani, P., Manfredi, A., Melchionda, F., Onofri, V., Pelotti, S., Robino, C., Sorcaburu-Ciglieri, S., Tagliabracci, A., Fattorini, P.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 49:(2020). [10.1016/j.fsigen.2020.102400]
Abstract:
The performance of the Precision ID Identity Panel (Thermo Fisher Scientific) was assessed on a set of 87 forensic samples with different levels of degradation for which a reference sample from the “same donor” or from a “first degree relative” was available. PCR-MPS analysis... was performed with DNA input ranging from 1 ng to 12 pg and through 21–26 PCR cycles, in replicate tests, and a total number of 255 libraries were sequenced on the Ion Personal Genome Machine™ (PGM™) System. The evaluation of the molecular data allowed to set a fix threshold for locus call at 50 x which suitably worked even when low amounts of degraded DNA (12 pg) were investigated. In these analytical conditions, in fact, 25 PCR cycles allowed the genotyping of about 50 % and 35 % of the autosomal and the Y-specific markers on average, respectively, for each single amplification with a negligible frequency of drop ins (0.01 %). On the other hand, drop out artefacts reached 18–23 % when low copy number and degraded DNA samples were studied, with surviving alleles showing more than 600 reads in 2.9 % of the cases. Our data pointed out that the Precision ID Identity Panel allowed accurate typing of almost any amount of good quality/moderately degraded DNA samples, in duplicate tests. The analysis of low copy number DNAs evidenced that the same allele of a heterozygous genotype could be lost twice, thus suggesting that a third amplification could be useful for a correct genotype assignment in these peculiar cases. Using the consensus approach, a limited number of genotyping errors were computed and about 37 % of the autosomal markers was finally typed with a corresponding combined random match probability of at least 1.6 × 10−13, which can be considered an excellent result for this kind of challenging samples. In the end, the results presented in this study emphasize the crucial role of the expert opinion in the correct evaluation of artefacts arising from PCR-MPS technology that could potentially lead to genetic mistyping.
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Exploring the usefulness of microhaplotypes in forensic identification using massive parallel sequencing technology
Anno: 2020
Rivista: MINERVA MEDICOLEGALE
Autori/autrici: Turchi, Chiara; Melchionda, Filomena; Pesaresi, Mauro; Ciarimboli, Eleonora; Bini, Carla; Fattorini, Paolo; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/283637
Citazioni:
Exploring the usefulness of microhaplotypes in forensic identification using massive parallel sequencing technology / Turchi, C., Melchionda, F., Pesaresi, M., Ciarimboli, E., Bini, C., Fattorini, P., Tagliabracci, A.. - In: MINERVA MEDICOLEGALE. - ISSN 0026-4849. - 140:1(2020), pp. 26-36. [10.23736/S0026-4849.20.01790-3]

Evaluation of the Ion AmpliSeq SARS-CoV-2 Research Panel by Massive Parallel Sequencing
Anno: 2020
Rivista: GENES
Autori/autrici: Alessandrini, F.; Caucci, S.; Onofri, V.; Melchionda, F.; Tagliabracci, A.; Bagnarelli, P.; Di Sante, L.; Turchi, C.; Menzo, S.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/283652
Citazioni:
Evaluation of the Ion AmpliSeq SARS-CoV-2 Research Panel by Massive Parallel Sequencing / Alessandrini, F., Caucci, S., Onofri, V., Melchionda, F., Tagliabracci, A., Bagnarelli, P., Di Sante, L., Turchi, C., Menzo, S.. - In: GENES. - ISSN 2073-4425. - 11:8(2020), p. 929. [10.3390/genes11080929]
Abstract:
Deep knowledge of the genetic features of SARS-CoV-2 is essential to track the ongoing pandemic through different geographical areas and to design and develop early diagnostic procedures, therapeutic strategies, public health interventions, and vaccines. We describe protocols and first results of th...e Ion AmpliSeq™ SARS-CoV-2 Research Panel by a massively parallel sequencing (MPS) assay. The panel allows for targeted sequencing by overlapping amplicons, thereby providing specific, accurate, and high throughput analysis. A modified reverse transcription reaction, which consists of the use of a SARS-CoV-2 specific primers pool from the Ion AmpliSeq SARS-CoV-2 Research Panel, was assessed in order to promote viral RNA specific reverse transcription. The aim of this study was to evaluate the effectiveness of the Ion AmpliSeq™ SARS-CoV-2 Research Panel in sequencing the entire viral genome in different samples. SARS-CoV-2 sequence data were obtained from ten viral isolates and one nasopharyngeal swab from different patients. The ten isolate samples amplified with 12 PCR cycles displayed high mean depth values compared to those of the two isolates amplified with 20 PCR cycles. High mean depth values were also obtained for the nasopharyngeal swab processed by use of a target-specific reverse transcription. The relative depth of coverage (rDoC) analysis showed that when 12 PCR cycles were used, all target regions were amplified with high sequencing coverage, while in libraries amplified at 20 cycles, a poor uniformity of amplification, with absent or low coverage of many target regions, was observed. Our results show that the Ion AmpliSeq SARS-CoV-2 Research Panel can achieve rapid and high throughput SARS-CoV-2 whole genome sequencing from 10 ng of DNA-free viral RNA from isolates and from 1 ng of DNA-free viral RNA from a nasopharyngeal swab using 12 PCR cycles for library amplification. The modified RT-PCR protocol yielded superior results on the nasopharyngeal swab compared to the reverse transcription reaction set up according to the manufacturer's instructions.
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Analysis of recombination and mutation events for 12 X-Chr STR loci: A collaborative family study of the Italian Speaking Working Group Ge.F.I
Anno: 2019
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Bini, C.; Di Nunzio, C.; Aneli, S.; Sarno, S.; Alu, M.; Carnevali, E.; Colao, E.; Di Nunzio, M.; Fabbri, M.; Fattorini, P.; Grignani, P.; Piccinini, A.; Ponzano, E.; Robino, C.; Rocchi, A.; Scarnicci, F.; Turchi, C.; Verzeletti, A.; Pelotti, S.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/271398
Citazioni:
Analysis of recombination and mutation events for 12 X-Chr STR loci: A collaborative family study of the Italian Speaking Working Group Ge.F.I / Bini, C., Di Nunzio, C., Aneli, S., Sarno, S., Alu, M., Carnevali, E., Colao, E., Di Nunzio, M., Fabbri, M., Fattorini, P., Grignani, P., Piccinini, A., Ponzano, E., Robino, C., Rocchi, A., Scarnicci, F., Turchi, C., Verzeletti, A., Pelotti, S.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2019). (The 28th Congress of International Society for Forensic Genetics (ISFG) Prague 9 -13 September 2019) [10.1016/j.fsigss.2019.10.027].

Development of a forensic DNA phenotyping panel using massive parallel sequencing
Anno: 2019
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Turchi, C.; Onofri, V.; Melchionda, F.; Fattorini, P.; Tagliabracci, A.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/270992
Citazioni:
Development of a forensic DNA phenotyping panel using massive parallel sequencing / Turchi, C., Onofri, V., Melchionda, F., Fattorini, P., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2019). (The 28th Congress of International Society for Forensic Genetics (ISFG) Prague 9 -13 September 2019) [10.1016/j.fsigss.2019.09.069].

Evaluation of a microhaplotypes panel for forensic genetics using massive parallel sequencing technology
Anno: 2019
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Turchi, Chiara; Melchionda, Filomena; Pesaresi, Mauro; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/266847
Citazioni:
Evaluation of a microhaplotypes panel for forensic genetics using massive parallel sequencing technology / Turchi, C., Melchionda, F., Pesaresi, M., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 41:(2019), pp. 120-127. [10.1016/j.fsigen.2019.04.009]
Abstract:
Massive parallel DNA sequencing (MPS) makes it possible to explore a new type of genetic marker, known as microhaplotypes or microhaps. These loci were recently introduced in the landscape of forensic genetic and appear to be useful for identification purposes, reconstruction of family relationships..., ancestry prediction and DNA mixtures deconvolution. Microhaplotypes loci, based on 89 loci in ALFRED, were selected and their genetic variations in 100 Italian individuals were evaluated by using MPS, in order to make inference about utility of a set of microhaps in forensic genetics. After MPS, the panel was reduced to 87 microhaps, comprised of 266 different SNPs and spread across 22 human autosomes. Genotype and haplotype frequencies were estimated, as well as the effective number of alleles at each locus (Ae), which relates to the usefulness of the locus in resolution of relationships and deconvolution of DNA mixtures. Overall, the Ae values for the 87 microhaps range from 1.010 to 8.344, with about 80% showing values greater than 2.0. Noteworthy, 32 microhaps display Ae values greater than 3.0 and 18 loci Ae above 4.0. To explore the suitability of microhaplotypes in mixture deconvolution, the probability of detecting a mixture, as a function of Ae, was inferred for different groups of loci. Considering the fourteen loci with Ae between 3.0 and 3.999 the probability of detecting a mixture was at least 0.99973, while considering the ten loci with Ae between 4.0 and 4.999 the probability was at least 0.99998. Moreover, when considering just the six loci with Ae between 5.0 and 5.999 the probability of detecting a mixture was at least 0.99984, while when considering just the two loci with Ae above 6 the probability was 0.97228. Combining these 32 MH loci, the theoretical probability of detecting a mixture was 0.999999999999973. These results make the subset of 32 loci with Ae above three informative for mixture resolution. The individual matching probabilities (PI) of the 87 microhaps ranged from 0.032 to 0.9802. Considering the 32 microhap loci with Ae greater than 3.0, the cumulative PI value was 1.6 × 10-33, while considering the 18 microhap loci with Ae above 4.0, the cumulative PI value was 2.34 × 10-21. Overall the results of this study confirmed the utility of microhaps in forensic genetics.
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Dealing with low amounts of degraded DNA: Evaluation of SNP typing of challenging forensic samples by using massive parallel sequencing
Anno: 2019
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Turchi, C.; Onofri, V.; Melchionda, F.; Bini, C.; Previdere, C.; Carnevali, E.; Robino, C.; Sorcaburu-Ciglieri, S.; Marrubini, G.; Pelotti, S.; Fattorini, P.; Tagliabracci, A.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/270995
Citazioni:
Dealing with low amounts of degraded DNA: Evaluation of SNP typing of challenging forensic samples by using massive parallel sequencing / Turchi, C., Onofri, V., Melchionda, F., Bini, C., Previdere, C., Carnevali, E., Robino, C., Sorcaburu-Ciglieri, S., Marrubini, G., Pelotti, S., Fattorini, P., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2019). (The 28th Congress of International Society for Forensic Genetics (ISFG) Prague 9 -13 September 2019) [10.1016/j.fsigss.2019.09.032].

Massive parallel sequencing and osteogenesis imperfecta: An essential tool for forensic investigation over child abuse
Anno: 2019
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Onofri, V.; Pesaresi, M.; Turchi, C.; Tagliabracci, A.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/270999
Citazioni:
Massive parallel sequencing and osteogenesis imperfecta: An essential tool for forensic investigation over child abuse / Onofri, V., Pesaresi, M., Turchi, C., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2019). (The 28th Congress of International Society for Forensic Genetics (ISFG) Prague 9 -13 September 2019) [10.1016/j.fsigss.2019.09.040].

Performance of a massive parallel sequencing microhaplotypes assay on degraded DNA
Anno: 2019
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Turchi, Chiara; Melchionda, Filomena; Pesaresi, Mauro; Fattorini, Paolo; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/271707
Citazioni:
Performance of a massive parallel sequencing microhaplotypes assay on degraded DNA / Turchi, C., Melchionda, F., Pesaresi, M., Fattorini, P., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - (2019). (The 28th Congress of International Society for Forensic Genetics (ISFG) Prague 9 -13 September 2019) [10.1016/j.fsigss.2019.10.176].

Evaluation of 34 Y-SNPs on degraded DNA samples using massive parallel sequencing: an italian collaborative exercise
Anno: 2018
Autori/autrici: Turchi, Chiara; Onofri, Valerio; Bini, Carla; Previderè, Carlo; Carnevali, Eugenia; Robino, Carlo; Pelotti, Susi; Fattorini, Paolo; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/265807
Citazioni:
Evaluation of 34 Y-SNPs on degraded DNA samples using massive parallel sequencing: an italian collaborative exercise / Turchi, C., Onofri, V., Bini, C., Previderè, C., Carnevali, E., Robino, C., Pelotti, S., Fattorini, P., Tagliabracci, A.. - (2018), pp. 35-35. (11th Haploid Markers Conference Bydgoszcz, Poland 17-19/05/2018).

Influence of personal meaning organization and 5-HTTLPR genotype on cortisol stress reactivity in healthy women
Anno: 2017
Rivista: EUROPEAN PSYCHIATRY
Autori/autrici: Marini, A; Turchi, C; Skrami, E; Gesuita, R; Giordani, M; Nardi, B
Lingua: ENG
Classificazione IRIS: 1.5 Abstract in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/256526
Citazioni:
Influence of personal meaning organization and 5-HTTLPR genotype on cortisol stress reactivity in healthy women / Marini, A., Turchi, C., Skrami, E., Gesuita, R., Giordani, M., Nardi, B.. - In: EUROPEAN PSYCHIATRY. - ISSN 0924-9338. - ELETTRONICO. - 41:(2017), pp. S165-S166. [10.1016/j.eurpsy.2017.01.2049]

A microhaplotypes panel for forensic genetics using massive parallel sequencing
Anno: 2017
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Turchi, Chiara; Pesaresi, Mauro; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/256093
Citazioni:
A microhaplotypes panel for forensic genetics using massive parallel sequencing / Turchi, C., Pesaresi, M., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - 6:(2017), pp. e117-e118. (27th Congress of the International Society for Forensic Genetics Seoul, Republic of Korea 28 August- 2 September 2017) [10.1016/j.fsigss.2017.09.035].

mtGenome resolution of the two most common Romanian haplotypes R0 and X2e1b and evaluation of point heteroplasmy detection by massively parallel sequencing
Anno: 2016
Autori/autrici: Turchi, Chiara; Stanciu, Florin; Buscemi, Loredana; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/256105
Citazioni:
mtGenome resolution of the two most common Romanian haplotypes R0 and X2e1b and evaluation of point heteroplasmy detection by massively parallel sequencing / Turchi, C., Stanciu, F., Buscemi, L., Tagliabracci, A.. - (2016). (Haploid Marker 2016 - Update on DNA variation Berlin 20-21/05/2016).

The mitochondrial DNA makeup of Romanians: a forensic mtDNA control region database and phylogenetic characterization
Anno: 2016
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Turchi, Chiara; Stanciu, Florin; Paselli, Giorgia; Buscemi, Loredana; Parson, Walther; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/236213
Citazioni:
The mitochondrial DNA makeup of Romanians: a forensic mtDNA control region database and phylogenetic characterization / Turchi, C., Stanciu, F., Paselli, G., Buscemi, L., Parson, W., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 24:(2016), pp. 136-142. [10.1016/j.fsigen.2016.06.013]

mtDNA control region forensic database in the Romanian population and deep investigation of the most frequent haplotypes
Anno: 2014
Autori/autrici: Turchi, Chiara; Stanciu, Florin; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/256106
Citazioni:
mtDNA control region forensic database in the Romanian population and deep investigation of the most frequent haplotypes / Turchi, C., Stanciu, F., Tagliabracci, A.. - (2014). (DNA in Forensics 2014 Brussels 14-16/05/2014).

Heroin addictions in Italians: Evaluation of OPRM1 genetic variants by case-control association study
Anno: 2013
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Buscemi, Loredana; Turchi, Chiara; Onori, Nicoletta; Ramberti, Francesco; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/237289
Citazioni:
Heroin addictions in Italians: Evaluation of OPRM1 genetic variants by case-control association study / Buscemi, L., Turchi, C., Onori, N., Ramberti, F., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - 4:(2013), pp. e57-e58. (25th World Congress of the International Society for Forensic Genetics (ISFG) Melbourne, Australia 2–7 September 2013) [10.1016/j.fsigss.2013.10.029].

Role of 5-HTTLPR polymorphism in the development of the Inward/Outward Personality Organization: a genetic association study
Anno: 2013
Rivista: PLOS ONE
Autori/autrici: Nardi, Bernardo; Marini, Alessandra; Turchi, Chiara; Arimatea, E.; Tagliabracci, Adriano; Bellantuono, Cesario
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/140080
Citazioni:
Role of 5-HTTLPR polymorphism in the development of the Inward/Outward Personality Organization: a genetic association study / Nardi, B., Marini, A., Turchi, C., Arimatea, E., Tagliabracci, A., Bellantuono, C.. - In: PLOS ONE. - ISSN 1932-6203. - ELETTRONICO. - 8:12 (e82192)(2013), pp. 1-8. [10.1371/journal.pone.0082192]
Abstract:
Reciprocity with primary caregivers affects subjects’ adaptive abilities toward the construction of the most useful personal meaning organization (PMO) with respect to their developmental environment. Within cognitive theory the post-rationalist approach has outlined two basic categories of ...identity construction and of regulation of cognitive and emotional processes: the Outward and the Inward PMO. The presence of different, consistent clinical patterns in Inward and Outward subjects is paralleled by differences in cerebral activation during emotional tasks on fMRI and by different expression of some polymorphisms in serotonin pathways. Since several lines of evidence support a role for the 5-HTTLPR polymorphism in mediating individual susceptibility to environmental emotional stimuli, this study was conducted to investigate its influence in the development of the Inward/Outward PMO. PMO was assessed and the 5-HTTLPR polymorphism investigated in 124 healthy subjects who were subdivided into an Inward (n = 52) and an Outward (n = 72) group. Case-control comparisons of short allele (S) frequencies showed significant differences between Inwards and Outwards (p = 0.036, x2 test; p = 0.026, exact test). Genotype frequencies were not significantly different although values slightly exceeded p#0.05 (p = 0.056, x2 test; p = 0.059, exact test). Analysis of the 5-HTTLPR genotypes according to the recessive inheritance model showed that the S/S genotype increased the likelihood of developing an Outward PMO (p = 0.0178, x2 test; p = 0.0143, exact test; OR = 3.43, CI (95%) = 1.188–9.925). A logistic regression analysis confirmed the association between short allele and S/S genotypes with the Outward PMO also when gender and age were considered. However none of the differences remained significant after correction for multiple testing, even though using the recessive model they approach significance. Overall our data seem to suggest a putative genetic basis for interindividual differences in PMO development.
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HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations
Anno: 2012
Rivista: ACTA NEUROPSYCHIATRICA
Autori/autrici: Nardi, Bernardo; Piva, Francesco; Turchi, Chiara; Giulietti, Matteo; Castellucci, G.; Arimatea, E.; Rocchetti, D.; Rocchetti, G.; Principato, Giovanni; Tagliabracci, Adriano; Bellantuono, Cesario
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/64461
Citazioni:
HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations / Nardi, B., Piva, F., Turchi, C., Giulietti, M., Castellucci, G., Arimatea, E., Rocchetti, D., Rocchetti, G., Principato, G., Tagliabracci, A., Bellantuono, C.. - In: ACTA NEUROPSYCHIATRICA. - ISSN 0924-2708. - STAMPA. - 24:6(2012), pp. 336-343. [10.1111/j.1601-5215.2011.00644.x]
Abstract:
Objective: Caregiver behaviours and emotional expressions may induce development of two basic categories of constructing identity and of regulating cognitive and emotional processes: an Inward or an Outward Personal Meaning Organisation (PMO). Inwards read environmental signals through their inte...rnal activations. Their emotions are more distinct and reciprocity is more based on physical distance (protection, loneliness). , while Outwards read internal activations through the environment. Their emotions are more blurred and reciprocity is more based on a semantic sight of relations (approval, rules). It has recently been shown that PMO development may also have physiological and genetic bases. In a functional Magnetic Resonance Imaging (fMRI) study Inward and Outward subjects showed different amygdala activation patterns and an association with the SLC6A4 serotonin transporter gene 5-HTTLPR polymorphism. Methods: In this work 149 healthy subjects were examined with respect to Inward and Outward PMOs. We explored the association with 10 serotonin receptor 2A (HTR2A) gene single nucleotide polymorphisms (SNPs) selected by bioinformatics methods. Results: An intronic SNP (rs55948462) was found to be significantly associated with an Inward and an Outward PMOs development. However, after statistical adjustments, these results did not remain significant. Conclusion: We did not find associations between considered SNPs and Inward/Outward PMOs. However the role of HTR2A polymorphisms not considered in this study and that of the other serotonin related genes should be valued. KEYWORDS: personality; serotonin; genetic association studies
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ADH4 intronic variations are associated with alcohol dependence: results from an Italian case-control association study.
Anno: 2012
Rivista: PHARMACOGENETICS AND GENOMICS
Autori/autrici: Turchi, Chiara; Piva, Francesco; Solito, G.; Principato, Giovanni; Buscemi, L.; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/64720
Citazioni:
ADH4 intronic variations are associated with alcohol dependence: results from an Italian case-control association study / Turchi, C., Piva, F., Solito, G., Principato, G., Buscemi, L., Tagliabracci, A.. - In: PHARMACOGENETICS AND GENOMICS. - ISSN 1744-6880. - 22:(2012), pp. 79-94. [10.1097/FPC.0b013e32834d05c8]

Searching for a relationship between the serotonin receptor 2A gene variations and the development of Inward and Outward Personal Meaning Organizations
Anno: 2011
Rivista: PSYCHIATRIC GENETICS
Autori/autrici: Nardi, Bernardo; Turchi, Chiara; Piva, Francesco; Giulietti, Matteo; Castellucci, G.; Arimatea, E.; Rocchetti, D.; Rocchetti, G.; Principato, Giovanni; Tagliabracci, Adriano; Bellantuono, Cesario
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/54338
Citazioni:
Searching for a relationship between the serotonin receptor 2A gene variations and the development of Inward and Outward Personal Meaning Organizations / Nardi, B., Turchi, C., Piva, F., Giulietti, M., Castellucci, G., Arimatea, E., Rocchetti, D., Rocchetti, G., Principato, G., Tagliabracci, A., Bellantuono, C.. - In: PSYCHIATRIC GENETICS. - ISSN 0955-8829. - STAMPA. - 21:5(2011), pp. 269-270. [10.1097/YPG.0b013e32834371bc]
Abstract:
The aim of this study was to explore whether the polymorphisms of the serotonin receptor 2A gene (HTR2A) affect the development of Inward or Outward Personal Meaning Organization (PMO). One hundred and forty-nine healthy unrelated Italians were assessed for PMO using a Post-Rationalist Clinical ... Interview and two questionnaires: Personal Meaning Questionnaire (Picardi, 2003) and a home-made Mini Questionnaire of Personal Organization. All participants gave their written informed consent to participate. The study was approved by the Ethics Committee of Azienda Universitaria-Ospedaliera Ospedali Riuniti, Ancona.Ten potentially phenotype-affecting single nucleotide polymorphisms at the HTR2A gene were selected by bioinformatics methods. Genomic DNA was extracted from buccal swabs and polymorphisms were genotyped by minisequencing assay.Our findings do not exclude the possibility that the PMOs have a genetic basis and call for further research into the role of genetic factors in their development.
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Genetic factors in inward vs outward personality organizations: focus on HTR2A polymorphisms.
Anno: 2011
Rivista: QUADERNI ITALIANI DI PSICHIATRIA
Autori/autrici: Nardi, Bernardo; Piva, Francesco; Turchi, Chiara; Cedraro, M.; Arimatea, E.; Giulietti, Matteo; Principato, Giovanni; Tagliabracci, Adriano; Bellantuono, Cesario
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/62555
Citazioni:
Genetic factors in inward vs outward personality organizations: focus on HTR2A polymorphisms / Nardi, B., Piva, F., Turchi, C., Cedraro, M., Arimatea, E., Giulietti, M., Principato, G., Tagliabracci, A., Bellantuono, C.. - In: QUADERNI ITALIANI DI PSICHIATRIA. - ISSN 0393-0645. - STAMPA. - 30:2(2011), pp. 83-88. [10.1016/j.quip.2011.04.001]
Abstract:
Introduction: reciprocity with primary caregivers drives subjects' adaptive abilities towards the construction of a Personal Meaning Organization (PMO) that is useful with respect to their developmental environment. Those with inward personalities read environmental signals through their intern...al activations; those with outward personalities read internal activations through the environment. It was recently been shown that PMO development may also have physiological and genetic bases. Because the serotonin receptor 2A gene (HTR2A) is one of the serotoninergic genes associated with personality and behavior, it is expected to exert an influence on PMO development. The aim of this work was to explore possible correlations between HTR2A gene single nucleotide polymorphisms (SNPs) and the inward/outward PMO. Material and methods: we enrolled 149 healthy, unrelated members of our hospital staff (65 males, 84 females; mean ages 42+/- 10.3 and 37.6 +/- 8.7, respectively). Each was classified as having an inward or outward PMO by two trained psychotherapists using a Post-Rationalist Clinical Interview and two self-rating questionnaires for PMO. A mini-sequencing assay was used to assess 20 SNPs at the HTR2A locus in genomic DNA samples from each participant. Results: three intronic HTR2A SNPs (rs2770304, rs55948462, rs61948318) were found to be associated with the development of an inward rather than an outward PMO.
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Utility of Y-STR haplotypes databases in forensic caseworks
Anno: 2010
Autori/autrici: Alessandrini, Federica; Buscemi, L; Onofri, Valerio; Turchi, Chiara; Tagliabracci, Adriano
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75707
Citazioni:
Utility of Y-STR haplotypes databases in forensic caseworks / Alessandrini, F., Buscemi, L., Onofri, V., Turchi, C., Tagliabracci, A.. - (2010), pp. 16-16. (7th International Y Chromosome User Workshop 4th International EMPOP meeting-Haploid DNA markers in forensic genetics Berlino 22-24 aprile 2010).

An enrichment of forensic haploid marker databases: mtDNA and Y-chromosome polymorphisms in a population of Romanians
Anno: 2010
Autori/autrici: Turchi, Chiara; Alessandrini, Federica; Onofri, Valerio; Buscemi, L; Parson, W; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75712
Citazioni:
An enrichment of forensic haploid marker databases: mtDNA and Y-chromosome polymorphisms in a population of Romanians / Turchi, C., Alessandrini, F., Onofri, V., Buscemi, L., Parson, W., Tagliabracci, A.. - (2010), pp. 91-91. (7th International Y Chromosome User Workshop 4th International EMPOP meeting-Haploid DNA markers in forensic genetics Berlino 22-24 aprile 2010).

GABRA2 and Alcohol Use Disorders: No Evidence of an Association in an Italian Case-Control Study
Anno: 2010
Rivista: ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH
Autori/autrici: Onori, N; Turchi, Chiara; Solito, G; Gesuita, Rosaria; Buscemi, L; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/52820
Citazioni:
GABRA2 and Alcohol Use Disorders: No Evidence of an Association in an Italian Case-Control Study / Onori, N., Turchi, C., Solito, G., Gesuita, R., Buscemi, L., Tagliabracci, A.. - In: ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH. - ISSN 0145-6008. - 34:(2010), pp. 659-668.

Introduzione alla genetica forense
Anno: 2010
Autori/autrici: Tagliabracci, Adriano; Alessandrini, Federica; Mazzarini, Laura; Onofri, Valerio; Onori, N; Turchi, Chiara
Lingua: ITA
Classificazione IRIS: 3.1 Monografia o trattato scientifico
Scheda completa IRIS: https://iris.univpm.it/handle/11566/40479
Citazioni:
Introduzione alla genetica forense / Tagliabracci, A., Alessandrini, F., Mazzarini, L., Onofri, V., Onori, N., Turchi, C.. - (2010).

I marcatori genetici nelle indagini diagnostiche per la verifica di assenza di condizioni di alcol dipendenza in ambiente di lavoro
Anno: 2010
Autori/autrici: Buscemi, L.; Turchi, Chiara; Onori, N.; Ulissi, A.; Baldassari, M.; Tagliabracci, Adriano
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75743
Citazioni:
I marcatori genetici nelle indagini diagnostiche per la verifica di assenza di condizioni di alcol dipendenza in ambiente di lavoro / Buscemi, L., Turchi, C., Onori, N., Ulissi, A., Baldassari, M., Tagliabracci, A.. - 32:(2010), pp. 229-230. (73° Congresso Nazionale SIMLII Società Italiana di Medicina del Lavoro ed Igiene Industriale La Medicina del Lavoro quale elemento migliorativo per la tutela e sicurezza del Lavoratore e delle attività dell’Impresa Roma 1-4 dicembre 2010).

Polymorphisms of mtDNA control region in Tunisian and Moroccan populations: an enrichment of forensic mtDNA databases with Northern Africa data
Anno: 2009
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Turchi, Chiara; Buscemi, L; Giacchino, E; Onofri, Valerio; Fendt, L; Parson, W; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25740
Citazioni:
Polymorphisms of mtDNA control region in Tunisian and Moroccan populations: an enrichment of forensic mtDNA databases with Northern Africa data / Turchi, C., Buscemi, L., Giacchino, E., Onofri, V., Fendt, L., Parson, W., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 3:(2009), pp. 166-172.

Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T
Anno: 2009
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS
Autori/autrici: Grignani, P; Turchi, Chiara; Achilli, A; Peloso, G; Alù, M; Ricci, U; Robino, C; Pelotti, S; Carnevali, E; Boschi, I; Tagliabracci, Adriano; Previderè, C.
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25739
Citazioni:
Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T / Grignani, P., Turchi, C., Achilli, A., Peloso, G., Alù, M., Ricci, U., Robino, C., Pelotti, S., Carnevali, E., Boschi, I., Tagliabracci, A., Previderè, C.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. - ISSN 1872-4973. - 4:(2009), pp. 21-25.

Genetic susceptibility for addiction: Searching of risk loci for the widespread drugs of abuse
Anno: 2009
Autori/autrici: Buscemi, L; Onori, N; Turchi, Chiara; Solito, G; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25742
Citazioni:
Genetic susceptibility for addiction: Searching of risk loci for the widespread drugs of abuse / Buscemi, L., Onori, N., Turchi, C., Solito, G., Tagliabracci, A.. - 2:(2009), pp. 487-488. (23rd International ISFG Congress Buenos Aires, Argentina 15-18 settembre 2009).

Italian mitochondrial DNA database: results of the Ge.F.I-ISFG collaborative exercise and proficiency testing
Anno: 2008
Rivista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE
Autori/autrici: Turchi, C; Buscemi, L; Previder, C; Grignani, P; Brandstatter, A; Achilli, A; Parson, W; Tagliabracci, A.; Milena, Alù; Giovanni, Beduschi; Carla, Bini; Ilaria, Boschi; Eugenia, Carnevali; Sarah, Gino; Laura, Giunti; Massimo, Lancia; Pascali, VINCENZO LORENZO; Susi, Pelotti; Silvano, Presciuttini; Ugo, Ricci; Carlo, Robino.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25665
Citazioni:
Italian mitochondrial DNA database: results of the Ge.F.I-ISFG collaborative exercise and proficiency testing / Turchi, C., Buscemi, L., Previder, C., Grignani, P., Brandstatter, A., Achilli, A., Parson, W., Tagliabracci, A., Milena, A., Giovanni, B., Carla, B., Ilaria, B., Eugenia, C., Sarah, G., Laura, G., Massimo, L., Pascali, V.L., Susi, P., Silvano, P., Ugo, R., et al.. - In: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. - ISSN 0937-9827. - 122:(2008), pp. 199-204.
Abstract:
This work is a review of a collaborative exercise on mtDNA analysis undertaken by the Italian working group (Ge.F.I.). A total of 593 samples from 11 forensic genetic laboratories were subjected to hypervariable region (HVS-I/HVS-II) sequence analysis. The raw lane data were sent to MtDNA Population... Database (EMPOP) for an independent evaluation. For the inclusion of data for the Italian database, quality assurance procedures were applied to the control region profiles. Only eight laboratories with a final population sample of 395 subjects passed the quality conformance test. Control region haplogroup (hg) assignments were confirmed by restriction fragment length polymorphism (RFLP) typing of the most common European hg-diagnostic sites. A total of 306 unique haplotypes derived from the combined analysis of control and coding region polymorphisms were found; the most common haplotype -CRS, 263, 309.1C, 315.1C/7025 AluI- was shared by 20 subjects. The majority of mtDNAs detected in the Italian population fell into the most common west Eurasian hgs: R0a (0.76%), HV (4.81%), H (38.99%), HV0 (3.55%), J (7.85%), T (13.42%), U (11.65%), K (10.13%), I (1.52%), X (2.78%), and W (1.01%).
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Y-chromosome markers distribution in Northern Africa: High-resolution SNP and STR analysis in Tunisia and Morocco populations
Anno: 2008
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara; Pesaresi, Mauro; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57929
Citazioni:
Y-chromosome markers distribution in Northern Africa: High-resolution SNP and STR analysis in Tunisia and Morocco populations / Onofri, V., Alessandrini, F., Turchi, C., Pesaresi, M., Tagliabracci, A.. - Vol. 1, No. 1, 2008:(2008), pp. 235-236. (22nd Congress of the International Society for Forensic Genetics Copenhagen, Denmark 21-285 Agosto 2007).

D16S539 microvariant or D2S1338 off-ladder allele? A case report about a range overlapping between two loci
Anno: 2008
Autori/autrici: Onofri, Valerio; Pesaresi, Mauro; Alessandrini, Federica; Turchi, Chiara; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57930
Citazioni:
D16S539 microvariant or D2S1338 off-ladder allele? A case report about a range overlapping between two loci / Onofri, V., Pesaresi, M., Alessandrini, F., Turchi, C., Tagliabracci, A.. - Vol. 1, No. 1, 2008:(2008), pp. 123-124. (22nd Congress of the International Society for Forensic Genetics Copenhagen, Denmark 21-25 Agosto 2007).

Association study of alcoholism: development of a multiplex PCR of 10 polymorphisms in the GABRA2 gene
Anno: 2008
Autori/autrici: Onori, N; Turchi, Chiara; Buscemi, L; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75747
Citazioni:
Association study of alcoholism: development of a multiplex PCR of 10 polymorphisms in the GABRA2 gene / Onori, N., Turchi, C., Buscemi, L., Tagliabracci, A.. - (2008), pp. 5-5. (DNA in Forensic 2008 Ancona 27-30 maggio 2008).

POPULATION DATA FOR D10S1248, D14S1434, AND D22S1045 MINISTRS LOCI FROM THE MARCHES REGION (CENTRAL ITALY)
Anno: 2008
Autori/autrici: Onofri, Valerio; Giacomini, Ilenia; Alessandrini, Federica; Turchi, Chiara; Buscemi, L; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25747
Citazioni:
POPULATION DATA FOR D10S1248, D14S1434, AND D22S1045 MINISTRS LOCI FROM THE MARCHES REGION (CENTRAL ITALY) / Onofri, V., Giacomini, I., Alessandrini, F., Turchi, C., Buscemi, L., Tagliabracci, A.. - 1:(2008), pp. 353-355. (22nd International ISFG Congress Copenhagen, Danimarca 21-25 agosto 2007).

Association of genetic variations in alcohol dehydrogenase 4 with alcohol dependence in Italian population sample
Anno: 2008
Autori/autrici: Turchi, Chiara; Buscemi, L; Piva, Francesco; Alessandrini, Federica; Onofri, Valerio; Principato, Giovanni; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25748
Citazioni:
Association of genetic variations in alcohol dehydrogenase 4 with alcohol dependence in Italian population sample / Turchi, C., Buscemi, L., Piva, F., Alessandrini, F., Onofri, V., Principato, G., Tagliabracci, A.. - 1:(2008), pp. 580-581. (22nd International ISFG Congress Copenhagen, Danimarca 21-25 agosto 2007).

MtDNA analysis for genetic identification of forensically important insects
Anno: 2008
Rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Autori/autrici: Alessandrini, Federica; Mazzanti, Morena; Onofri, Valerio; Turchi, Chiara; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75561
Citazioni:
MtDNA analysis for genetic identification of forensically important insects / Alessandrini, F., Mazzanti, M., Onofri, V., Turchi, C., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - 1:(2008), pp. 584-585. (22nd International ISFG Congress Copenhagen, Denmark 21–25 August 2007).

Y-chromosome genetic structure in sub-Apennine populations of Central Italy by SNP and STR analysis.
Anno: 2007
Rivista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara; Fraternale, B; Buscemi, L; Pesaresi, Mauro; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57720
Citazioni:
Y-chromosome genetic structure in sub-Apennine populations of Central Italy by SNP and STR analysis / Onofri, V., Alessandrini, F., Turchi, C., Fraternale, B., Buscemi, L., Pesaresi, M., Tagliabracci, A.. - In: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. - ISSN 0937-9827. - 121(3):(2007), pp. 234-237.

A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy.
Anno: 2007
Rivista: FAMILIAL CANCER
Autori/autrici: Bianchi, Francesca; Galizia, E.; Porfiri, E.; Belvederesi, L.; Catalani, R.; Loretelli, Cristian; Bracci, R.; Bearzi, Italo; Turchi, Chiara; Viel, A.; Cellerino, R.
Lingua: ENG
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/50734
Citazioni:
A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy / Bianchi, F., Galizia, E., Porfiri, E., Belvederesi, L., Catalani, R., Loretelli, C., Bracci, R., Bearzi, I., Turchi, C., Viel, A., Cellerino, R.. - In: FAMILIAL CANCER. - ISSN 1389-9600. - 6(1):(2007), pp. 97-102.

A survey on forensic caseworks solved by a panel of dedicated genetic markers: STRs, SNPs, and mtDNA
Anno: 2007
Autori/autrici: N., Onori; Alessandrini, Federica; Onofri, Valerio; Turchi, Chiara; Mazzarini, Laura; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75748
Citazioni:
A survey on forensic caseworks solved by a panel of dedicated genetic markers: STRs, SNPs, and mtDNA / N., O., Alessandrini, F., Onofri, V., Turchi, C., Mazzarini, L., Tagliabracci, A.. - (2007). (III Mediterranean Academy of Forensic Sciences Congress Porto 21-23 Giugno 2007).

Y-chromosome genetic structure in a sub-Apennine population of the Marches (central Italy): analysis by SNP and STR polymorphisms.
Anno: 2006
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Buscemi, L; Pesaresi, Mauro; Turchi, Chiara; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58343
Citazioni:
Y-chromosome genetic structure in a sub-Apennine population of the Marches (central Italy): analysis by SNP and STR polymorphisms / Onofri, V., Alessandrini, F., Buscemi, L., Pesaresi, M., Turchi, C., Tagliabracci, A.. - 1288:(2006), pp. 168-170. (21st Congress of the International Society for Forensic Genetics Ponta Delgada, Portugal 13-16 Settembre 2005).

Subtyping mtDNA haplogroup H by SnaPshot minisequencing and its application in forensic individual identification
Anno: 2006
Rivista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE
Autori/autrici: Grignani, G; Peloso, G; Achilli, A; Turchi, Chiara; Tagliabracci, Adriano; Alu', M; Beduschi, G; Ricci, U; Giunti, L; Robino, C; Gino, S; Previdere', C.
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25660
Citazioni:
Subtyping mtDNA haplogroup H by SnaPshot minisequencing and its application in forensic individual identification / Grignani, G., Peloso, G., Achilli, A., Turchi, C., Tagliabracci, A., Alu', M., Beduschi, G., Ricci, U., Giunti, L., Robino, C., Gino, S., Previdere', C.. - In: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. - ISSN 0937-9827. - 120:(2006), pp. 151-156.
Abstract:
Sequence variation of the hypervariable segments (HVS) I/II of mitochondrial DNA (mtDNA) and the haplogroup affiliation were determined in a sample of 271 Italian subjects. This analysis showed that 42% of the individuals could be ascribed to H, the most frequent haplogroup in European Caucasian pop...ulations. This fraction was then screened for specific single nucleotide polymorphisms located in the coding region to identify H subclades H1-H15. We set up two multiplex polymerase chain reactions and specific SNaPshot assays to investigate the frequency distribution of these subgroups in our population sample and to examine their usefulness in discriminating among commonly shared HVS I/II sequences. This allowed the assignment of a large portion of the mtDNAs (similar to 70%) to specific subhaplogroups, with H1 and H5 being the most represented. About two-thirds of the individuals sharing common HVS I/II sequences were subdivided and ascribed to specific H subhaplogroups with a significant reduction of the frequencies of the most common mtDNA haplotypes. Haplogroup H subtyping could thus be extremely useful in forensic identification when many samples have to be analysed and compared, avoiding excessive time-consuming and labor-intensive sequencing analysis.
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Post-mortem DNA damage: a comparative study of STRs and SNPs typing efficiency in simulated forensic samples
Anno: 2006
Autori/autrici: Onori, N; Onofri, Valerio; Alessandrini, Federica; Buscemi, L; Pesaresi, Mauro; Turchi, Chiara; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58344
Citazioni:
Post-mortem DNA damage: a comparative study of STRs and SNPs typing efficiency in simulated forensic samples / Onori, N., Onofri, V., Alessandrini, F., Buscemi, L., Pesaresi, M., Turchi, C., Tagliabracci, A.. - 1288:(2006), pp. 510-512. (21st Congress of the International Society for Forensic Genetics Ponta Delgada, Portugal 13-16 Settembre 2005).

Multiplex genotyping of 22 autosomal SNPs and its application in the forensic field.
Anno: 2006
Autori/autrici: Turchi, Chiara; Onofri, Valerio; Alessandrini, Federica; Buscemi, L.; Pesaresi, Mauro; Presciuttini, S.; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58342
Citazioni:
Multiplex genotyping of 22 autosomal SNPs and its application in the forensic field / Turchi, C., Onofri, V., Alessandrini, F., Buscemi, L., Pesaresi, M., Presciuttini, S., Tagliabracci, A.. - Volume 1288:(2006), pp. 40-42. (21st Congress of the International Society for Forensic Genetics Ponta Delgada, Portugal 13-16 Settembre 2005).

Applicazioni di Y-SNPs in genetica forense: allestimento di sei pcr multiple per l’analisi di 37 marcatori biallelici
Anno: 2006
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara; Buscemi, L.; Pesaresi, Mauro; Tagliabracci, Adriano
Lingua: ITA
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57932
Citazioni:
Applicazioni di Y-SNPs in genetica forense: allestimento di sei pcr multiple per l’analisi di 37 marcatori biallelici / Onofri, V., Alessandrini, F., Turchi, C., Buscemi, L., Pesaresi, M., Tagliabracci, A.. - (2006). (XX Congresso Nazionale dei Genetisti Forensi Italiani (Ge.F.I.) Bologna 9-11 Settembre 2004).

DNA mitocondriale: II fase dell’esercizio collaborativo 2000-2004 del gruppo Ge.F.I. (Gruppo genetisti forensi italiani)
Anno: 2006
Autori/autrici: Buscemi, L; Turchi, Chiara; Previderè, C; Presciuttini, S; Tagliabracci, Adriano
Lingua: ITA
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/40854
Citazioni:
DNA mitocondriale: II fase dell’esercizio collaborativo 2000-2004 del gruppo Ge.F.I. (Gruppo genetisti forensi italiani) / Buscemi, L., Turchi, C., Previderè, C., Presciuttini, S., Tagliabracci, A.. - (2006), pp. 147-160. (XX Congresso Nazionale dei Genetisti Forensi Italiani Bologna 9-11 settembre 2004).

Development of multiplex PCRs for evolutionary and forensic applications of 37 human Y chromosome SNPs
Anno: 2006
Rivista: FORENSIC SCIENCE INTERNATIONAL
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara; Pesaresi, Mauro; L., Buscemi; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57429
Citazioni:
Development of multiplex PCRs for evolutionary and forensic applications of 37 human Y chromosome SNPs / Onofri, V., Alessandrini, F., Turchi, C., Pesaresi, M., L., B., Tagliabracci, A.. - In: FORENSIC SCIENCE INTERNATIONAL. - ISSN 0379-0738. - 157:(2006), pp. 23-35. [10.1016/j.forsciint.2005.03.014]
Abstract:
This work describes an efficient and rapid test for typing 37 single nucleotide polymorphisms (SNPs) of the non-recombining region of Y chromosome (NRY) from a minimal amount of DNA using six PCR multiplexes. Markers were drawn following a hierarchical strategy based on the phylogenetic tree of Y ch...romosome proposed by the Y Chromosome Consortium [The Y Chromosome Consortium, A nomenclature system for the tree of human Y-chromosomal binary haplogroups, Genome Res. 12 (2002) 339-348]. Two multiplexes-arbitrarily named MY1 and MY2-were developed to explore the basal branches of the tree encompassing all the major clades A-R: MY1 for markers M35, M89, M172, M170, M9, M173, M45 and MY2 for markers M52, M216, M174, M181, M201, M91, M96, M214. Four multiplexes able of typing the more superficial branches typical of most frequent European haplogroups E3b, J2, R1 and I, were also developed and named MY-E3b (M78, M107, M224, M165, M148, M81), MY-J2 (M158, M68, M47, M102, M137, M67), MY-R1 (M17, M269, M18, P25, SRY10831.2) and MY-I (M72, M223, M26, M21, M161). SNP genotyping was carried out by hot-start PCR amplification with primers yielding fragments between 63 and 210 nucleotides, followed by mini sequencing reaction based on dideoxy single-base extension and capillary electrophoresis of extension products. The sequential application of these multiplexes is a robust and effective resource for typing the most frequent European Y-SNP haplogroups, and appears to be suitable for forensic purposes and evolutionary studies. (C) 2005 Elsevier Ireland Ltd. All rights reserved.
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Development of heptaplex PCR system to analyse X chromosome STR loci from five Italian population sample. A collaborative study.
Anno: 2005
Rivista: FORENSIC SCIENCE INTERNATIONAL
Autori/autrici: Bini, C.; Ceccardi, S.; Ferri, G.; Pelotti, S.; Alu', M.; Roncaglia, E.; Beduschi, G.; Caenazzo, L.; Ponzano, E.; Tasinato, P.; Turchi, Chiara; Buscemi, L.; Mazzanti, Morena; Tagliabracci, Adriano; Toni, C.; Spinetti, I.; Domenici, R.; Presciuttini, S.
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25661
Citazioni:
Development of heptaplex PCR system to analyse X chromosome STR loci from five Italian population sample. A collaborative study / Bini, C., Ceccardi, S., Ferri, G., Pelotti, S., Alu', M., Roncaglia, E., Beduschi, G., Caenazzo, L., Ponzano, E., Tasinato, P., Turchi, C., Buscemi, L., Mazzanti, M., Tagliabracci, A., Toni, C., Spinetti, I., Domenici, R., Presciuttini, S.. - In: FORENSIC SCIENCE INTERNATIONAL. - ISSN 0379-0738. - 153:(2005), pp. 231-236.

Multiplex PCR development of y-chromosomal biallelic polymorphisms for forensic application
Anno: 2005
Rivista: JOURNAL OF FORENSIC SCIENCES
Autori/autrici: Alessandrini, Federica; Turchi, Chiara; Onofri, Valerio; L., Buscemi; Pesaresi, Mauro; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57427
Citazioni:
Multiplex PCR development of y-chromosomal biallelic polymorphisms for forensic application / Alessandrini, F., Turchi, C., Onofri, V., L., B., Pesaresi, M., Tagliabracci, A.. - In: JOURNAL OF FORENSIC SCIENCES. - ISSN 0022-1198. - 50:(2005), pp. 519-525.
Abstract:
Single-nucleotide polymorphisms of Y chromosome (Y-SNPs) are a class of markets of interest in forensic investigations, because many of them show regional specificity, providing useful information about the geographic origin of a subject or evidence Under investigation. A first multiplex with 7 SNPs... (M35, M89, M9, M170, M172, M45, M173), which occur in the basal branches of the phylogenetic tree and are able to assign a subject to known most frequent European haplogroups. was designed. SNP genotyping was accomplished by hot-start PCR with primers amplifying fragments between 96 and 136 nucleotides, minisequencing, and capillary electrophoresis of extension products. Ninety seven subjects of known geographic provenance were Studied, of which 68 from Europe. Of these, 57 had mutations found more frequently in European haplogroups and 11 more frequent in Asian populations. Subjects front non-European Countries were also examined and had haplogroups common in their regions of provenance. Experiments with low molecular weight DNA gave positive amplification from 1 ng of DNA for all seven SNPs.
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Development and forensic applications of multiplex PCR of autosomal biallele polymorphisms
Anno: 2004
Autori/autrici: Turchi, Chiara; Pesaresi, Mauro; Presciuttini, S.; Alessandrini, Federica; Sassaroli, C.; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58357
Citazioni:
Development and forensic applications of multiplex PCR of autosomal biallele polymorphisms / Turchi, Chiara; Pesaresi, Mauro; Presciuttini, S.; Alessandrini, Federica; Sassaroli, C.; Tagliabracci, Adriano. - 1261:(2004), pp. 213-215. (Intervento presentato al convegno 20th Congress of the International Society for Forensic Genetics tenutosi a Arcachon, France nel 9-13 Settembre 2003).

Development of a heptaplex PCR system to analyse X- chromosome STR loci from five Italian population sample. A collaborative study
Anno: 2004
Autori/autrici: Bini, C.; Ceccardi, S.; Ferri, G.; Pelotti, S.; Alù, M.; Roncaglia, E.; Beduschi, G.; Caenazzo, L.; Ponzano, E.; Tasinato, P.; Turchi, Chiara; Mazzanti, Morena; Tagliabracci, Adriano; Toni, C.; Spinetti, I.; Domenici, R.; Presciuttini, S.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/64756
Citazioni:
Development of a heptaplex PCR system to analyse X- chromosome STR loci from five Italian population sample. A collaborative study / Bini, C.; Ceccardi, S.; Ferri, G.; Pelotti, S.; Alù, M.; Roncaglia, E.; Beduschi, G.; Caenazzo, L.; Ponzano, E.; Tasinato, P.; Turchi, Chiara; Mazzanti, Morena; Tagliabracci, Adriano; Toni, C.; Spinetti, I.; Domenici, R.; Presciuttini, S.. - 1261:(2004), pp. 272-274. (Intervento presentato al convegno 20th International ISFG Congress tenutosi a Arcachon, France nel 9-13 settembre 2003).

Incremento del potere informativo in genetica forense: analisi di 37 Y-SNPs in sei PCR multiple
Anno: 2004
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara; Buscemi, L.; Pesaresi, Mauro; Sassaroli, C.; Tagliabracci, Adriano
Lingua: ITA
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58358
Citazioni:
Incremento del potere informativo in genetica forense: analisi di 37 Y-SNPs in sei PCR multiple / Onofri, V., Alessandrini, F., Turchi, C., Buscemi, L., Pesaresi, M., Sassaroli, C., Tagliabracci, A.. - 2004:(2004), p. 427. (VII Congresso Nazionale della Società Italiana di Genetica Umana Pisa 13-15 Ottobre 2004).

Unusual association of three rare alleles and a mismatch in a case of paternity testing
Anno: 2004
Rivista: JOURNAL OF FORENSIC SCIENCES
Autori/autrici: Turchi, Chiara; Pesaresi, Mauro; Alessandrini, Federica; Onofri, Valerio; A., Arseni; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57430
Citazioni:
Unusual association of three rare alleles and a mismatch in a case of paternity testing / Turchi, C., Pesaresi, M., Alessandrini, F., Onofri, V., A., A., Tagliabracci, A.. - In: JOURNAL OF FORENSIC SCIENCES. - ISSN 0022-1198. - 49:(2004), pp. 260-262.
Abstract:
This study reports a paternity case analyzed by the AmpFlSTR Identifiler Kit (AB) in which father and daughter shared three rare alleles for D195433, D18551 and TH01 microsatellites. The case also showed an apparent exclusion, due to a mutation at the D3S1358 microsatellite. Sequencing analysis was ...performed to assess the size of the rare alleles and to establish their structure, which revealed some molecular variations in regions flanking the motif repeats.
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Development of six multiplex PCR with 37 Y-chromosome SNPs
Anno: 2004
Autori/autrici: Onofri, Valerio; Alessandrini, Federica; Turchi, Chiara; Buscemi, L.; Pesaresi, Mauro; Tagliabracci, Adriano
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58354
Citazioni:
Development of six multiplex PCR with 37 Y-chromosome SNPs / Onofri, V., Alessandrini, F., Turchi, C., Buscemi, L., Pesaresi, M., Tagliabracci, A.. - Vol 12-S1-2004:(2004), p. 304. (European Human Genetics Conference 2004 Munich, Germany 12-15 Giugno 2004).

Genotyping Y-SNPs: development of PCR multiplexes for forensic applications of the phylogeographic analysis of the Y-chromosome
Anno: 2004
Autori/autrici: Alessandrini, Federica; Onofri, Valerio; Turchi, Chiara; Pesaresi, Mauro; L., Buscemi; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75726
Citazioni:
Genotyping Y-SNPs: development of PCR multiplexes for forensic applications of the phylogeographic analysis of the Y-chromosome / Alessandrini, F., Onofri, V., Turchi, C., Pesaresi, M., L., B., Tagliabracci, A.. - (2004), pp. 1-1. (IV International Forensic Y-User Workshop “Haploid DNA markers in forensic genetics" Berlino 18-20 novembre 2004).

Analisi della perdita di eterozigosi (LOH) nelle neoplasie della vescica mediante elettroforesi capillare
Anno: 2004
Autori/autrici: Alessandrini, Federica; Turchi, Chiara; Onofri, Valerio; Tagliabracci, Adriano; Milanese, Giulio; G., Muzzonigro
Lingua: ITA
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75724
Citazioni:
Analisi della perdita di eterozigosi (LOH) nelle neoplasie della vescica mediante elettroforesi capillare / Alessandrini, F., Turchi, C., Onofri, V., Tagliabracci, A., Milanese, G., G., M.. - (2004), pp. 586-586. (VII congresso SIGU- Società Italiana di Genetica Umana Pisa 13-15 ottobre 2004).

Mithocondrial heteroplasmy in hematologic malignancies
Anno: 2004
Autori/autrici: Buscemi, L.; Turchi, Chiara; Onofri, Valerio; Pesaresi, Mauro; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58351
Citazioni:
Mithocondrial heteroplasmy in hematologic malignancies / Buscemi, L., Turchi, C., Onofri, V., Pesaresi, M., Tagliabracci, A.. - Vol 12-1-2004:(2004), p. 172. (European Human Genetics Conference 2004 Munich, Germany 12-15 Giugno 2004).

Identification of mithocondrial DNA haplogroups in a population sample of Central Italy
Anno: 2004
Autori/autrici: Turchi, Chiara; Buscemi, L.; Pesaresi, Mauro; Onofri, Valerio; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58355
Citazioni:
Identification of mithocondrial DNA haplogroups in a population sample of Central Italy / Turchi, C., Buscemi, L., Pesaresi, M., Onofri, V., Tagliabracci, A.. - Vol12-S1-2004:(2004), p. 303. (European Human Genetics Conference 2004 Munich, Germany 12-15 Giugno 2004).

Occurrence of heteroplasmy in related individuals
Anno: 2003
Autori/autrici: Turchi, Chiara; Buscemi, L.; Pesaresi, Mauro; Di Saverio, M.; Paoli, M.; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58374
Citazioni:
Occurrence of heteroplasmy in related individuals / Turchi, Chiara; Buscemi, L.; Pesaresi, Mauro; Di Saverio, M.; Paoli, M.; Tagliabracci, Adriano. - 1239:(2003), pp. 553-556. (Intervento presentato al convegno 19th Congress of the International Society for Forensic Genetics tenutosi a Münster, Germany nel 28 Agosto-1 Settembre 2001).

Analisi dell’instabilità dei microsatelliti nelle neoplasie della vescica mediante elettroforesi capillare. esperienza preliminare
Anno: 2003
Autori/autrici: Turchi, Chiara; Tagliabracci, Adriano; Alessandrini, Federica; Milanese, Giulio; Galosi, Andrea Benedetto; G., Muzzonigro
Lingua: ITA
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75720
Citazioni:
Analisi dell’instabilità dei microsatelliti nelle neoplasie della vescica mediante elettroforesi capillare. esperienza preliminare / Turchi, C., Tagliabracci, A., Alessandrini, F., Milanese, G., Galosi, A.B., G., M.. - 75:(2003), pp. 75-75. (XXIII Congresso Nazionale Società Italiana di Urologia Oncologica (S.I.Ur.O.) Ancona 8-11 novembre 2003).

Fingerprints as evidence for a genetic profile: Morphological study on fingerprints and analysis of exogenous and individual factors affecting DNA typing
Anno: 2003
Rivista: JOURNAL OF FORENSIC SCIENCES
Autori/autrici: Alessandrini, Federica; Cecati, Monia; Pesaresi, Mauro; Turchi, Chiara; Carle, Flavia; Tagliabracci, Adriano
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/57426
Citazioni:
Fingerprints as evidence for a genetic profile: Morphological study on fingerprints and analysis of exogenous and individual factors affecting DNA typing / Alessandrini, F., Cecati, M., Pesaresi, M., Turchi, C., Carle, F., Tagliabracci, A.. - In: JOURNAL OF FORENSIC SCIENCES. - ISSN 0022-1198. - 48:(2003), pp. 586-592.
Abstract:
Material recovered from 374 fingerprints left by eleven laboratory workers on three different substrates (glass, wood, metal) at a standard pressure time of 30 s, with and without preliminary handwashing, was submitted to morphological, quantitative, and type analysis. Morphological and agarose-gel ...electrophoresis analysis showed that a non-negligible amount of epidermal corneal cells presented apoptotic alterations. The quantity of DNA recovered from fingerprints ranged between 0.04 to 0.2 ng, and in a significant number of experiments no DNA was detected. Handwashing reduced the amount of DNA recovered from fingerprints. The "shedder status" of the donor was a very important factor, causing inter-individual variations in the amount of DNA left by fingerprints. Spurious alleles from laboratory-based and secondary transfer contamination, stutters, and other artifacts described when analyzing low-copy-number DNA and capable of affecting correct profiles were observed.
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Y-SNPs and forensic applications: a preliminary study
Anno: 2003
Autori/autrici: Alessandrini, Federica; Turchi, Chiara; Onofri, Valerio; Buscemi, L; Pesaresi, Mauro; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/41611
Citazioni:
Y-SNPs and forensic applications: a preliminary study / Alessandrini, F., Turchi, C., Onofri, V., Buscemi, L., Pesaresi, M., Tagliabracci, A.. - (2003).

Sviluppo di PCR multiple di SNPs autosomici in genetica forense
Anno: 2003
Autori/autrici: Turchi, Chiara; Pesaresi, Mauro; Sassaroli, C.
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75855
Citazioni:
Sviluppo di PCR multiple di SNPs autosomici in genetica forense / Turchi, C., Pesaresi, M., Sassaroli, C.. - STAMPA. - (2003), pp. 153-162.

A multicentric study of SE33 allele frequencies in the Italian population
Anno: 2003
Autori/autrici: Buscemi, L.; Turchi, Chiara; Pesaresi, Mauro; Tagliabracci, Adriano; Caenazzo, L.; Ponzano, E.; Cortivo, P.; Previderè, C.; Peloso, G.; Grignani, P.; Pierucci, G.; Toni, C.; Spinetti, I.; Presciuttini, S.; Domenici, R.
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/58372
Citazioni:
A multicentric study of SE33 allele frequencies in the Italian population / Buscemi, L., Turchi, C., Pesaresi, M., Tagliabracci, A., Caenazzo, L., Ponzano, E., Cortivo, P., Previderè, C., Peloso, G., Grignani, P., Pierucci, G., Toni, C., Spinetti, I., Presciuttini, S., Domenici, R.. - 1239:(2003), pp. 83-86. (19th Congress of the International Society for Forensic Genetics Münster, Germany 28 Agosto-1 Settembre 2001).

Multiplex PCR development of Y-chromosomal biallelic polymorphisms for forensic applications
Anno: 2002
Autori/autrici: Turchi, Chiara; Alessandrini, Federica; Onofri, Valerio; Pesaresi, M.; Tagliabracci, A.
Lingua: ENG
Classificazione IRIS: 4.2 Abstract in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/75714
Citazioni:
Multiplex PCR development of Y-chromosomal biallelic polymorphisms for forensic applications / Turchi, C., Alessandrini, F., Onofri, V., Pesaresi, M., Tagliabracci, A.. - (2002). (Proceedings of the III International Forensic Y-User Workshop Y chromosome haplotype database(s): state of the art and future developments Porto 7-9 novembre 2002).

Polymorphism of the mitochondrial control region in Italians
Anno: 2001
Rivista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE
Autori/autrici: Tagliabracci, Adriano; Turchi, Chiara; L., Buscemi; C., Sassaroli
Classificazione IRIS: 1.1 Articolo in rivista
Scheda completa IRIS: https://iris.univpm.it/handle/11566/25409
Citazioni:
Polymorphism of the mitochondrial control region in Italians / Tagliabracci, A., Turchi, C., L., B., C., S.. - In: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. - ISSN 0937-9827. - STAMPA. - 114:(2001), pp. 224-228.

Polymorphism of mitochondrial DNA: creation of a database of genotype frequencies in an italian population sample from central Italy
Anno: 2000
Autori/autrici: Buscemi, L; Turchi, Chiara; Benedetto, G; Sassaroli, C; Paoli, M; Tagliabracci, Adriano
Lingua: ENG
Classificazione IRIS: 4.1 Contributo in Atti di convegno
Scheda completa IRIS: https://iris.univpm.it/handle/11566/41827
Citazioni:
Polymorphism of mitochondrial DNA: creation of a database of genotype frequencies in an italian population sample from central Italy / Buscemi, L., Turchi, C., Benedetto, G., Sassaroli, C., Paoli, M., Tagliabracci, A.. - 1193:(2000), pp. 341-343. (18th International ISFH Congress San Francisco, CA, USA 17-21 agosto 1999).