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Microsatellites used in forensics are in regions enriched for trait-associated variants

The 20 short tandem repeat (STR) loci of the combined DNA index system (CODIS) are the basis of the vast majority of forensic genetics in the United States. One argument for permissive rules about the collection of CODIS genotypes is that the CODIS loci are thought to contain little information abou...

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Autores principales: Link, Vivian, Zavaleta, Yuómi Jhony A., Reyes, Rochelle-Jan, Ding, Linda, Wang, Judy, Rohlfs, Rori V., Edge, Michael D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570123/
https://www.ncbi.nlm.nih.gov/pubmed/37841589
http://dx.doi.org/10.1016/j.isci.2023.107992
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author Link, Vivian
Zavaleta, Yuómi Jhony A.
Reyes, Rochelle-Jan
Ding, Linda
Wang, Judy
Rohlfs, Rori V.
Edge, Michael D.
author_facet Link, Vivian
Zavaleta, Yuómi Jhony A.
Reyes, Rochelle-Jan
Ding, Linda
Wang, Judy
Rohlfs, Rori V.
Edge, Michael D.
author_sort Link, Vivian
collection PubMed
description The 20 short tandem repeat (STR) loci of the combined DNA index system (CODIS) are the basis of the vast majority of forensic genetics in the United States. One argument for permissive rules about the collection of CODIS genotypes is that the CODIS loci are thought to contain little information about ancestry or traits. However, in the past 20 years, a growing field has identified hundreds of thousands of genotype-trait associations. Here, we conduct a survey of the landscape of such associations surrounding the CODIS loci as compared with non-CODIS STRs. Although this study cannot establish or quantify associations between CODIS genotypes and phenotypes, we find that the regions around the CODIS loci are enriched for both known pathogenic variants (> 90th percentile) and for trait-associated SNPs identified in genome-wide association studies (GWAS) (≥ 95th percentile in 10kb and 100kb flanking regions), compared with other random sets of autosomal tetranucleotide-repeat STRs.
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spelling pubmed-105701232023-10-14 Microsatellites used in forensics are in regions enriched for trait-associated variants Link, Vivian Zavaleta, Yuómi Jhony A. Reyes, Rochelle-Jan Ding, Linda Wang, Judy Rohlfs, Rori V. Edge, Michael D. iScience Article The 20 short tandem repeat (STR) loci of the combined DNA index system (CODIS) are the basis of the vast majority of forensic genetics in the United States. One argument for permissive rules about the collection of CODIS genotypes is that the CODIS loci are thought to contain little information about ancestry or traits. However, in the past 20 years, a growing field has identified hundreds of thousands of genotype-trait associations. Here, we conduct a survey of the landscape of such associations surrounding the CODIS loci as compared with non-CODIS STRs. Although this study cannot establish or quantify associations between CODIS genotypes and phenotypes, we find that the regions around the CODIS loci are enriched for both known pathogenic variants (> 90th percentile) and for trait-associated SNPs identified in genome-wide association studies (GWAS) (≥ 95th percentile in 10kb and 100kb flanking regions), compared with other random sets of autosomal tetranucleotide-repeat STRs. Elsevier 2023-09-21 /pmc/articles/PMC10570123/ /pubmed/37841589 http://dx.doi.org/10.1016/j.isci.2023.107992 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Link, Vivian
Zavaleta, Yuómi Jhony A.
Reyes, Rochelle-Jan
Ding, Linda
Wang, Judy
Rohlfs, Rori V.
Edge, Michael D.
Microsatellites used in forensics are in regions enriched for trait-associated variants
title Microsatellites used in forensics are in regions enriched for trait-associated variants
title_full Microsatellites used in forensics are in regions enriched for trait-associated variants
title_fullStr Microsatellites used in forensics are in regions enriched for trait-associated variants
title_full_unstemmed Microsatellites used in forensics are in regions enriched for trait-associated variants
title_short Microsatellites used in forensics are in regions enriched for trait-associated variants
title_sort microsatellites used in forensics are in regions enriched for trait-associated variants
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570123/
https://www.ncbi.nlm.nih.gov/pubmed/37841589
http://dx.doi.org/10.1016/j.isci.2023.107992
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