Review of the Forensic Applicability of Biostatistical Methods for Inferring Ancestry from Autosomal Genetic Markers

Tvedebrink, Torben

doi:10.3390/genes13010141

Cited by 8 publications

(3 citation statements)

References 59 publications

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“…The main benefit of STRUC-TURE is its unsupervised implementation (unless otherwise specified with "POPFLAG"): by default, the analyses do not use population labels, which are socially constructed, and do not capture the full spectrum of an individual's genetic diversity. Another popular unsupervised method in forensics is principal component analysis (PCA) [53][54][55]. Both STRUCTURE and PCA differ from supervised approaches such as XGBoost and PLS-DA, which predict an individual's origin after fitting a model to a labeled dataset, i.e.…”

Section: Discussionmentioning

confidence: 99%

Comparative evaluation of the MAPlex, Precision ID Ancestry Panel, and VISAGE Basic Tool for biogeographical ancestry inference

Resutik

Aeschbacher

Krützen

et al. 2023

Forensic Science International: Genetics

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Section: Discussionmentioning

confidence: 99%

Comparative evaluation of the MAPlex, Precision ID Ancestry Panel, and VISAGE Basic Tool for biogeographical ancestry inference

Resutik

Aeschbacher

Krützen

et al. 2023

Forensic Science International: Genetics

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“…AIMs represent a genomic sequence. In forensic medicine 20 , SNPs are more frequently assessed, but small insertion-deletion (INDEL) polymorphisms are also examined; in the present study, INDELs were used to evaluate ancestry and have been described in previous studies related to the general Brazilian population 9 and cancer 11,15,21 .…”

Section: Discussionmentioning

confidence: 99%

Ancestry and self-reported race in Brazilian breast cancer women

Vieira,

Sant'Anna,

Laus

et al. 2023

Rev. Assoc. Med. Bras.

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SUMMARY OBJECTIVE: This study aimed to evaluate the association between self-reported race/color and ancestry in Brazilian patients with breast cancer. METHODS: This was an observational, transversal, epidemiological study, evaluating race and ancestry in 1,127 patients with breast cancer. For genetic ancestry, a 46-AIM-INDEL panel was used. The ancestral profile was evaluated with the Structure v.2.3.3 software. Descriptive statistics were performed. To assess differences between race and ancestry, an analysis of variance with Bonferoni adjustment was used. RESULTS: The race distribution was 77.7% white, 17.6% brown, 4.1% black, 0.4% yellow, and 0.3% cafuse. The African ancestry proportion was significantly (p<0.001) more evident in black [0.63±0.21 (0.17–0.96)], followed by brown [0.25±0.16 (0.02–0.70)], and less frequent in white skin color. The European ancestry proportion was significantly (p<0.001) higher in white [0.72±0.17 (0.02–0.97)], followed by brown [0.57±0.19 (0.12–0.92)], yellow [0.27±0.31 (0.12–0.620], and black [0.24±0.19 (0.02–0.72)]. The Asiatic ancestry proportion is significantly (p<0.001) higher in yellow [0.48±0.51 (0.04–0.93)]. The Amerindian ancestry proportion frequency was the least frequent in all groups, and cafuse patients did not express differences between all race groups. The brown race group presented differences in African and European ancestry. CONCLUSION: Although we found many similarities between white European ancestry, black African ancestry, and yellow Asian ancestry, there is great miscegenation between patients. Although they can be labeled as having one race, they do present many ancestral genes that would allow their inclusion in another race group.

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“…Liang et al performed a genome-wide screen for new MH markers consisting of two or more variants (InDels or SNPs) within 220 bp and successfully developed an NGS-based 67plex MH panel to complement complex kinship analysis ( Xue et al, 2023 ). The availability of human genetic data has significantly increased due to the commercialization of DNA testing and the public’s interest in their DNA and genetic ancestry ( Phillips, 2018 ; Glynn, 2022 ; Snedecor et al, 2022 ; Tvedebrink, 2022 ). This has led to the emergence of forensic genetic genealogy (FGG).…”

Section: Introductionmentioning

confidence: 99%

Bibliometric analysis of kinship analysis from 1960 to 2023: global trends and development

Liu,

Sun,

et al. 2024

Front. Genet.

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Kinship analysis is a crucial aspect of forensic genetics. This study analyzed 1,222 publications on kinship analysis from 1960 to 2023 using bibliometric analysis techniques, investigating the annual publication and citation patterns, most productive countries, organizations, authors and journals, most cited documents and co-occurrence of keywords. The initial publication in this field occurred in 1960. Since 2007, there has been a significant increase in publications, with over 30 published annually except for 2010. China had the most publications (n = 213, 17.43%), followed by the United States (n = 175, 14.32%) and Germany (n = 89, 7.28%). The United States also had the highest citation count. Sichuan University in China has the largest number of published articles. The University of Leipzig and the University of Cologne in Germany exhibit the highest total citation count and average citation, respectively. Budowle B was the most prolific author and Kayser M was the most cited author. In terms of publications, Forensic Science International-Genetics, Forensic Science International, and International Journal of Legal Medicine were the most prolific journals. Among them, Forensic Science International-Genetics boasted the highest h-index, citation count, and average citation rate. The most frequently cited publication was “Van Oven M, 2009, Hum Mutat”, with a total of 1,361 citations. The most frequent co-occurrence keyword included “DNA”, “Loci”, “Paternity testing”, “Population”, “Markers”, and “Identification”, with recent interest focusing on “Kinship analysis”, “SNP” and “Inference”. The current research is centered around microhaplotypes, forensic genetic genealogy, and massively parallel sequencing. The field advanced with new DNA analysis methods, tools, and genetic markers. Collaborative research among nations, organizations, and authors benefits idea exchange, problem-solving efficiency, and high-quality results.

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Review of the Forensic Applicability of Biostatistical Methods for Inferring Ancestry from Autosomal Genetic Markers

Cited by 8 publications

References 59 publications

Comparative evaluation of the MAPlex, Precision ID Ancestry Panel, and VISAGE Basic Tool for biogeographical ancestry inference

Comparative evaluation of the MAPlex, Precision ID Ancestry Panel, and VISAGE Basic Tool for biogeographical ancestry inference

Ancestry and self-reported race in Brazilian breast cancer women

Bibliometric analysis of kinship analysis from 1960 to 2023: global trends and development

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