Forensic Science International-Genetics最新文献

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The effect of commonly employed forensic DNA extraction protocols on ssDNA/dsDNA proportion and DNA integrity 常用的法医DNA提取方案对ssDNA/dsDNA比例和DNA完整性的影响。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-17 DOI: 10.1016/j.fsigen.2024.103210
Monika Stoljarova-Bibb, Maarja Sadam, Silja Erg, Marika Väli
{"title":"The effect of commonly employed forensic DNA extraction protocols on ssDNA/dsDNA proportion and DNA integrity","authors":"Monika Stoljarova-Bibb,&nbsp;Maarja Sadam,&nbsp;Silja Erg,&nbsp;Marika Väli","doi":"10.1016/j.fsigen.2024.103210","DOIUrl":"10.1016/j.fsigen.2024.103210","url":null,"abstract":"<div><div>The utilisation of massively parallel sequencing (MPS) in forensic DNA analysis is on the rise, driven by the expansion of targeted MPS panels in the market and the introduction of forensic investigative genetic genealogy. The MPS library preparation process, integral to both whole-genome sequencing (WGS) and targeted MPS panel data generation, is largely based on converting double-stranded DNA (dsDNA) into sequencing libraries. In the current study, we examined the effect of seven routinely used forensic DNA extraction methods on the strandedness (single-stranded or double-stranded) and the fragment size of the DNA extracted from buccal swab, blood, bone and tooth samples. Our findings reveal a variation in the proportion of dsDNA and single-stranded DNA (ssDNA), with the phenol-chloroform and silica column-based extraction methods tested predominantly yielding dsDNA, while the tested Chelex and magnetic bead-based extraction methods predominantly yielded ssDNA. Additionally, fragment size analysis showed that high molecular weight dsDNA was recovered from buccal swab samples with all of the extraction methods except Chelex, which yielded relatively short dsDNA fragments. DNA extracted from tooth samples with tested magnetic bead-based extraction methods resulted in longer dsDNA fragments compared to the silica column-based extraction protocol.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103210"},"PeriodicalIF":3.2,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Independent evaluation of an 11-CpG panel for age estimation in blood 独立评估血液中11-CpG面板的年龄估计。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-15 DOI: 10.1016/j.fsigen.2024.103214
Mie Rath Refn , Marie-Louise Kampmann , Agnes Vyöni , Jacob Tfelt-Hansen , Erik Sørensen , Sisse Rye Ostrowski , Mette Kongstad , Anastasia Aliferi , Federica Giangasparo , Niels Morling , David Ballard , Claus Børsting , Vania Pereira
{"title":"Independent evaluation of an 11-CpG panel for age estimation in blood","authors":"Mie Rath Refn ,&nbsp;Marie-Louise Kampmann ,&nbsp;Agnes Vyöni ,&nbsp;Jacob Tfelt-Hansen ,&nbsp;Erik Sørensen ,&nbsp;Sisse Rye Ostrowski ,&nbsp;Mette Kongstad ,&nbsp;Anastasia Aliferi ,&nbsp;Federica Giangasparo ,&nbsp;Niels Morling ,&nbsp;David Ballard ,&nbsp;Claus Børsting ,&nbsp;Vania Pereira","doi":"10.1016/j.fsigen.2024.103214","DOIUrl":"10.1016/j.fsigen.2024.103214","url":null,"abstract":"<div><div>DNA methylation patterns have emerged as reliable markers for age estimation, offering potential applications in forensic investigations, namely, in cases where there is no information about a possible suspect, in the identification of victims of mass disasters, or in immigration cases when assessing the age of individuals seeking asylum. This study aimed to evaluate the 11-CpG panel proposed by Aliferi et al. (2022) for age estimation. During the implementation phase, the <em>ELOVL2</em> amplicon from the original work was replaced with a shorter fragment, and the two PCR multiplexes were optimized by changing the amplicons and primer conditions of each multiplex. The technical performance of the optimised assay was assessed using artificially methylated DNA standards. Robust quantification of the methylation levels at the 11 CpG sites was observed. Sensitivity tests demonstrated that DNA inputs down to 10 ng could produce reliable methylation quantification. Using the optimised panel, 148 Danish blood samples (18 – 68 years of age) were typed for their methylation status at the 11 CpG sites. Results showed that the DNA methylation at the 11 CpG loci was significantly correlated with age (0.68 ≤ r ≤ 0.88) in the Danish sample set, confirming the potential of the 11 CpGs in age prediction. A Danish age prediction model was constructed using 108 of the Danish blood samples and a support vector machine with polynomial function (SVMp). The performances of the new model and the original model based on UK individuals were compared using the remaining 40 Danish blood samples. Comparing the published model to the one developed in this study gave similar results with mean absolute errors (MAE) of 3.28 and 3.35, respectively. However, the original model showed a bias in the age predictions, underestimating the age by an average of 1.53 years in the Danish samples. This bias towards underestimation was not observed in the newly developed age prediction model based on Danish individuals. In summary, this assay provides a reasonably accurate age estimation of a single-source donor, if the sample material is blood and more than 10 ng of nuclear DNA can be extracted from the sample.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103214"},"PeriodicalIF":3.2,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Disclosure of biological sex may impact individual privacy 披露生理性别可能会影响个人隐私。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-15 DOI: 10.1016/j.fsigen.2024.103213
Vanessa Lynch , Laura Jane Heathfield , Bruce Budowle
{"title":"Disclosure of biological sex may impact individual privacy","authors":"Vanessa Lynch ,&nbsp;Laura Jane Heathfield ,&nbsp;Bruce Budowle","doi":"10.1016/j.fsigen.2024.103213","DOIUrl":"10.1016/j.fsigen.2024.103213","url":null,"abstract":"<div><div>Human identification by forensic DNA profiling primarily relies on the analysis of short tandem repeat markers (STRs) and Amelogenin or other sex determining markers. The resultant DNA profiles can be compared directly between evidence and reference samples or indirectly (i.e., kinship) between human remains and family reference samples. Although Amelogenin serves as a phenotypic marker for biological sex, it is often considered innocuous, and the biological sex derived from this marker is routinely reported and/or uploaded to national DNA databases. However, biological sex does not necessarily align with gender identity, and chromosomal anomalies may affect the presentation of biological sex. Biological sex is genetically determined and assigned at birth based on anatomical features, whereas gender identity is an individual expression that may change over time and may not correspond with biological sex. This paper highlights how the differences between biological sex and gender identity can potentially impinge on individual privacy. Beyond gender differences, genetic anomalies related to the presentation of biological sex can occur, and the consequences of revealing such anomalies may have far-reaching implications for the individuals involved. Disclosing biological sex in a forensic DNA profile does not take into account the ramifications for persons or their families with genetic anomalies related to sex chromosomes (which may or may not be known to the individual), transgender transformations (which may or may not have been disclosed by the individual), or gender-identity expressions that do not correspond with biological sex. Through the presentation of case scenarios, while knowledge of biological sex may be important for operational forensic DNA laboratories and critical in certain cases, it is often not relevant to criminal investigations, courtroom deliberations, or public disclosure. It behoves all of us to understand that the dissemination of biological sex data in the public domain, especially in contexts where disclosure is unnecessary, may impact individual privacy. In light of the current understanding and growing impact of gender identity, it is recommended with all due speed that (1) ‘biological sex’ and ‘gender’ be recognised as separate concepts, not to be used synonymously nor interchangeably; (2) definitions of a DNA profile be reviewed and more clarity added; and (3) policies and protocols be developed to restrict such information from reports and court proceedings (i.e., public arenas), when not relevant, thereby reducing unwarranted intrusions into individual privacy and acknowledging the right to keep biological sex private and control how and when this personal information is shared.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103213"},"PeriodicalIF":3.2,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An investigation of downstream processing methods for challenging skeletal samples 具有挑战性的骨骼样品的下游处理方法的调查。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-14 DOI: 10.1016/j.fsigen.2024.103209
Jennifer L. Snedeker , Michelle A. Peck , David A. Russell , Amy S. Holmes , Christina M. Neal , Carmen R. Reedy , Sheree R. Hughes , Rachel M. Houston
{"title":"An investigation of downstream processing methods for challenging skeletal samples","authors":"Jennifer L. Snedeker ,&nbsp;Michelle A. Peck ,&nbsp;David A. Russell ,&nbsp;Amy S. Holmes ,&nbsp;Christina M. Neal ,&nbsp;Carmen R. Reedy ,&nbsp;Sheree R. Hughes ,&nbsp;Rachel M. Houston","doi":"10.1016/j.fsigen.2024.103209","DOIUrl":"10.1016/j.fsigen.2024.103209","url":null,"abstract":"<div><div>While skeletal remains are known for their resilience and often serve as the final source of information for unidentified human remains (UHRs), the traditional downstream processing of these samples is challenging due to their low template nature, DNA degradation, and the presence of PCR inhibitors, typically resulting in limited probative information. To address this issue, advanced genotyping methods can be explored to retrieve additional genetic information from these challenging samples to maximize investigative leads. Therefore, this study investigated the effectiveness of three advanced genotyping methods and assessed their suitability with compromised skeletal samples: 1) targeted next generation sequencing (NGS) of both STRs and SNPs using the ForenSeq® DNA Signature Prep chemistry, 2) targeted NGS of SNPs using the ForenSeq® Kintelligence kit, and 3) SNP genotyping using a microarray via the Infinium Global Screening Array. The genotype recovery and added investigative leads were compared across all methods. All three approaches demonstrated success with the challenging skeletal samples used in this study. Specifically, the ForenSeq® DNA Signature Prep chemistry outperformed traditional STR typing by improving the recovery of CODIS core loci. Additionally, the ForenSeq® Kintelligence kit and Infinium Global Screening Array provided eligible results for forensic investigative genetic genealogy (FIGG) searching. Based on these successes, we have developed a proposed workflow for downstream processing of challenging skeletal samples. Following the guidelines of the US Department of Justice, the recovery of the CODIS core loci should be attempted through traditional CE-based methods or a NDIS-approved NGS chemistry, such as ForenSeq® DNA Signature Prep. Alternatively, a mitochondrial DNA profile may be uploaded to CODIS for comparisons in UHR cases. However, if no probative information is developed from the forensic profile uploaded to CODIS, then FIGG methods can be implemented using the Infinium Global Screening Array for high-quality skeletal samples (DNA concentrations ≥ 0.5 ng/µL) or the ForenSeq® Kintelligence chemistry for low-template skeletal remains (DNA concentration ≤ 0.5 ng/µL). These findings provide valuable insight into the suitability and efficacy of advanced genotyping methods, offering promising opportunities for enhancing the investigation of cases involving UHRs.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103209"},"PeriodicalIF":3.2,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development and validation of a multiplex panel with 232 microhaplotypes and software for forensic kinship analysis 开发和验证包含 232 个微单倍型的多重面板和用于法医亲属关系分析的软件。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-13 DOI: 10.1016/j.fsigen.2024.103212
Shengjie Gao , Qiujuan Wang , Yunlu Gao , Xiaoxiao Feng , Kunjie Pang , Haicheng Li , Feixue Zheng , Jingwen Lu , Bowen Li , Jia Liu , Mingxia Yang , Kefeng Li , Halmurat Ismayiljan , Huanming Yang , Jiangwei Yan , Xiaosen Guo , Ye Yin
{"title":"Development and validation of a multiplex panel with 232 microhaplotypes and software for forensic kinship analysis","authors":"Shengjie Gao ,&nbsp;Qiujuan Wang ,&nbsp;Yunlu Gao ,&nbsp;Xiaoxiao Feng ,&nbsp;Kunjie Pang ,&nbsp;Haicheng Li ,&nbsp;Feixue Zheng ,&nbsp;Jingwen Lu ,&nbsp;Bowen Li ,&nbsp;Jia Liu ,&nbsp;Mingxia Yang ,&nbsp;Kefeng Li ,&nbsp;Halmurat Ismayiljan ,&nbsp;Huanming Yang ,&nbsp;Jiangwei Yan ,&nbsp;Xiaosen Guo ,&nbsp;Ye Yin","doi":"10.1016/j.fsigen.2024.103212","DOIUrl":"10.1016/j.fsigen.2024.103212","url":null,"abstract":"<div><div>In this study, we developed and validated a novel microhaplotype (MH) panel, the FGID Microhaplotype Kit, which contains 232 loci and was specifically designed for forensic kinship analysis. The performance of the panel was evaluated through rigorous testing that included sensitivity, species specificity, inhibitor resistance, uniformity, stability, accuracy and mixture deconvolution. The results showed that the kit is capable of reliably detecting all loci with minimal DNA input. It showed high species specificity for 12 non-human DNA samples and resistance to common inhibitors. In addition, forensic statistical analysis revealed a combined discriminatory power (cDP) of 1-1.68e-223 and superior combined exclusion power for duo and trio cases compared to standard STR panels. The panel was also tested for kinship analyzes with simulated and real pedigree samples and showed significantly higher likelihood ratios (LR) for detecting relationships between parents and offspring, full siblings, half siblings and first cousins, especially for more distant kinship types where conventional STR panels have difficulties. Using the FGID kinship software with the MH panel significantly improved the accuracy of kinship analysis, allowing even closely related individuals to be effectively discriminated while reducing the number of false negatives. In addition, principal component analysis (PCA) showed that the panel can distinguish the major world populations and East Asian subpopulations. Taken together, these results suggest that the FGID Microhaplotype Kit and associated software provide an efficient and accurate solution for forensic kinship analysis that offers better discriminatory power and reliability than traditional STR-based methods.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103212"},"PeriodicalIF":3.2,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142974045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterizing stutter in single cells and the impact on multi-cell analysis 单细胞口吃的特征及其对多细胞分析的影响。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-13 DOI: 10.1016/j.fsigen.2024.103211
Amber C.W. Vandepoele, Natalie Novotna, Dan Myers, Michael A. Marciano
{"title":"Characterizing stutter in single cells and the impact on multi-cell analysis","authors":"Amber C.W. Vandepoele,&nbsp;Natalie Novotna,&nbsp;Dan Myers,&nbsp;Michael A. Marciano","doi":"10.1016/j.fsigen.2024.103211","DOIUrl":"10.1016/j.fsigen.2024.103211","url":null,"abstract":"<div><div>Short tandem repeat analysis is a robust and reliable DNA analysis technique that aids in source identification of a biological sample. However, the interpretation, particularly when DNA mixtures are present at low levels, can be complicated by the presence of PCR artifacts most commonly referred to as stutter. The presence of stutter products can increase the difficulty of interpretation in DNA mixtures as well as low-level DNA samples down to a single cell. Stutter product formation is stochastic in nature and although methods exist that can estimate the magnitude of stutter product formation, it still is not well understood. With the increased sensitivity of forensic DNA analyses, it has become possible to obtain interpretable DNA profiles from as low as 6.6 pg of DNA, or a single human diploid cell. However, this presents an interpretational challenge because the stutter in these low-level DNA samples might stray from the expected patterns observed in high-level DNA samples. Therefore, this project focuses on characterizing stutter in single cell samples to help generate a deeper understanding of stutter and provide a guide for detecting and evaluating stutter in low-level samples. Stutter analysis was performed using data generated from 180 single cells isolated with the DEPArrayTM NxT, amplified using the PowerPlex Fusion 6 C amplification kit at 29 or 30 cycles. Stutter was successfully characterized in single cells and stutter percentages were highly elevated compared to high-level samples where the variance increased as the number of cells being analyzed decreased leading to potential high stutter at low DNA levels. Using empirical and simulated (resampled) data, this study also reinforces historically relevant patterns in stutter product formation and demonstrates the relative differences in stutter in n-1, n-2 and n + 1 stutter product formation in simple, complex and compound repeats.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103211"},"PeriodicalIF":3.2,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Searching national DNA databases with complex DNA profiles: An empirical study using probabilistic genotyping 利用复杂的 DNA 图谱搜索国家 DNA 数据库:使用概率基因分型的实证研究。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-10 DOI: 10.1016/j.fsigen.2024.103208
Séverine Nozownik , Tacha Hicks , Patrick Basset , Vincent Castella
{"title":"Searching national DNA databases with complex DNA profiles: An empirical study using probabilistic genotyping","authors":"Séverine Nozownik ,&nbsp;Tacha Hicks ,&nbsp;Patrick Basset ,&nbsp;Vincent Castella","doi":"10.1016/j.fsigen.2024.103208","DOIUrl":"10.1016/j.fsigen.2024.103208","url":null,"abstract":"<div><div>In most National DNA databases (NDNADB), only single source DNA profiles, and sometimes two-person DNA mixtures, can be searched provided a minimum number of loci (or alleles) is available. DNA profiles that do not meet these criteria (about 14 % of the traces analyzed in Western Switzerland) can be compared locally with candidates upon request from police services, used for one-off search, or remain unused. With the advent of probabilistic genotyping (PG), such complex DNA profiles can be compared to those stored in NDNADB based on likelihood ratios (LRs). In this pilot study, traces of known contributors and casework DNA profiles were used to evaluate the performance of the DBLR™ “Search database” tool in conjunction with the Swiss NDNADB. First, 40 DNA mixtures (2–5 contributors) from 15 volunteers were prepared in the wet laboratory. They were deconvoluted with STRmix™ and compared to a database containing the DNA profiles of these 15 volunteers, along with 174,493 person DNA profiles from the Swiss NDNADB (ground-truth experiments). Using LR thresholds of 10<sup>3</sup> and 10<sup>6</sup>, sensitivity and specificity were respectively 90.0 %/57.1 % and 99.9 %/100.0 %. For the lower LR threshold, this resulted in 52 adventitious associations out of more than 24 million pairwise comparisons. Second, 160 DNA mixture profiles from casework (2–4 contributors) that had previously been locally compared were searched with DBLR™ using the same conditions as for phase 1. With the 10<sup>3</sup> LR threshold, 380 associations were retrieved: 194 of these corresponded to expected associations, as they were previously made through the local comparisons with known persons, and 186 were new. With the 10<sup>6</sup> LR threshold, 199 associations were recovered of which 180 were expected and 19 new. This demonstrates that even with complex DNA profiles (up to 4 contributors) all expected associations were retrieved with a limited number of candidates per trace. Database searches of complex DNA mixtures allow for the generation of leads early in an investigation for DNA profiles that might otherwise remain underutilized. Next steps for the possible integration of DBLR™ or similar software within an operational context will require discussions on legal, financial, and technical aspects among stakeholders.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103208"},"PeriodicalIF":3.2,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uncovering genetic signatures of the Walser migration in the Alps: Patterns of diversity and differentiation 揭示阿尔卑斯山瓦尔泽迁徙的遗传特征:多样性和分化模式。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-09 DOI: 10.1016/j.fsigen.2024.103206
Peter Resutik , Joëlle Schneider , Simon Aeschbacher , Magnus Dehli Vigeland , Mario Gysi , Corinne Moser , Chiara Barbieri , Paul Widmer , Mathias Currat , Adelgunde Kratzer , Michael Krützen , Cordula Haas , Natasha Arora
{"title":"Uncovering genetic signatures of the Walser migration in the Alps: Patterns of diversity and differentiation","authors":"Peter Resutik ,&nbsp;Joëlle Schneider ,&nbsp;Simon Aeschbacher ,&nbsp;Magnus Dehli Vigeland ,&nbsp;Mario Gysi ,&nbsp;Corinne Moser ,&nbsp;Chiara Barbieri ,&nbsp;Paul Widmer ,&nbsp;Mathias Currat ,&nbsp;Adelgunde Kratzer ,&nbsp;Michael Krützen ,&nbsp;Cordula Haas ,&nbsp;Natasha Arora","doi":"10.1016/j.fsigen.2024.103206","DOIUrl":"10.1016/j.fsigen.2024.103206","url":null,"abstract":"<div><div>Since leaving Africa, human populations have gone through a series of range expansions. While the genomic signatures of these expansions are well detectable on a continental scale, the genomic consequences of small-scale expansions over shorter time spans are more challenging to disentangle. The medieval migration of the Walser people from their homeland in ssouthern Switzerland (Upper Valais) into other regions of the Alps is a good example of such a comparatively recent geographic and demographic expansion in humans. While several studies from the 1980s, based on allozyme markers, assessed levels of isolation and inbreeding in individual Walser communities, they mostly did so by focusing on a single community at a time. Here, we provide a comprehensive overview of genetic diversity and differentiation based on samples from multiple Walser, Walser-homeland, and non-Walser Alpine communities, along with an idealized (simulated) Swiss reference population (Ref-Pop). To explore genetic signals of the Walser migration in the genomes of their descendants, we use a set of forensic autosomal STRs as well as uniparental markers. Estimates of pairwise <em>F</em><sub>ST</sub> based on autosomal STRs reveal that the Walser-homeland and Walser communities show low to moderate genetic differentiation from the non-Walser Alpine communities and the idealized Ref-Pop. The geographically more remote and likely more isolated Walser-homeland community of Lötschental and the Walser communities of Vals and Gressoney appear genetically more strongly differentiated than other communities. Analyses of mitochondrial DNA revealed the presence of haplogroup W6 among the Walser communities, a haplogroup that is otherwise rare in central Europe. Our study contributes to the understanding of genetic diversity in the Walser-homeland and Walser people, but also highlights the need for a more comprehensive study of the population genetic structure and evolutionary history of European Alpine populations using genome-wide data.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103206"},"PeriodicalIF":3.2,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
STRAF 2: New features and improvements of the STR population data analysis software straf2: STR人口数据分析软件的新功能和改进。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-07 DOI: 10.1016/j.fsigen.2024.103207
Alexandre Gouy , Martin Zieger
{"title":"STRAF 2: New features and improvements of the STR population data analysis software","authors":"Alexandre Gouy ,&nbsp;Martin Zieger","doi":"10.1016/j.fsigen.2024.103207","DOIUrl":"10.1016/j.fsigen.2024.103207","url":null,"abstract":"<div><div>Population data in forensic genetics must be checked for a variety of statistical parameters before it can be employed for casework. Several tools exist to perform such tasks; however, it can become challenging to obtain the right results due to the number of software to use and the broad range of input formats. Furthermore, a substantial amount of experience is required to use some of these programs. To overcome these difficulties, we have developed STRAF (STR Analysis for Forensics), a convenient online tool to analyse STR data in forensic genetics. Since its first release in 2017, it has been used in many studies to report allele frequencies, forensic and population genetics parameters, and to explore genetic datasets interactively through a user-friendly interface. Herewith, we introduce the latest version of the STRAF software and the improvements we have implemented over the last years. STRAF 2 includes several new features, such as new statistical methods (multidimensional scaling, comparison to a reference population, haplotype diversities and frequencies) and file conversion utilities. Performance and user experience have also been improved and documentation has been extended. This new version is freely available as an R package (<span><span>https://github.com/agouy/straf</span><svg><path></path></svg></span><u>)</u> and a web application (<span><span>https://straf.fr</span><svg><path></path></svg></span>).</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103207"},"PeriodicalIF":3.2,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Using an interaction timeline to investigate factors related to shedder status 使用交互时间轴调查与脱壳状态相关的因素。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-12-02 DOI: 10.1016/j.fsigen.2024.103205
Duncan Taylor , Amy Cahill , Roland A.H. van Oorschot , Luke Volgin , Mariya Goray
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