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Record-matching of STR profiles with fragmentary genomic SNP data

In many forensic settings, identity of a DNA sample is sought from poor-quality DNA, for which the typical STR loci tabulated in forensic databases are not possible to reliably genotype. Genome-wide SNPs, however, can potentially be genotyped from such samples via next-generation sequencing, so that...

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Autores principales: Kim, Jaehee, Rosenberg, Noah A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620386/
https://www.ncbi.nlm.nih.gov/pubmed/37567955
http://dx.doi.org/10.1038/s41431-023-01430-9
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author Kim, Jaehee
Rosenberg, Noah A.
author_facet Kim, Jaehee
Rosenberg, Noah A.
author_sort Kim, Jaehee
collection PubMed
description In many forensic settings, identity of a DNA sample is sought from poor-quality DNA, for which the typical STR loci tabulated in forensic databases are not possible to reliably genotype. Genome-wide SNPs, however, can potentially be genotyped from such samples via next-generation sequencing, so that queries can in principle compare SNP genotypes from DNA samples of interest to STR genotype profiles that represent proposed matches. We use genetic record-matching to evaluate the possibility of testing SNP profiles obtained from poor-quality DNA samples to identify exact and relatedness matches to STR profiles. Using simulations based on whole-genome sequences, we show that in some settings, similar match accuracies to those seen with full coverage of the genome are obtained by genetic record-matching for SNP data that represent 5–10% genomic coverage. Thus, if even a fraction of random genomic SNPs can be genotyped by next-generation sequencing, then the potential may exist to test the resulting genotype profiles for matches to profiles consisting exclusively of nonoverlapping STR loci. The result has implications in relation to criminal justice, mass disasters, missing-person cases, studies of ancient DNA, and genomic privacy.
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spelling pubmed-106203862023-11-03 Record-matching of STR profiles with fragmentary genomic SNP data Kim, Jaehee Rosenberg, Noah A. Eur J Hum Genet Article In many forensic settings, identity of a DNA sample is sought from poor-quality DNA, for which the typical STR loci tabulated in forensic databases are not possible to reliably genotype. Genome-wide SNPs, however, can potentially be genotyped from such samples via next-generation sequencing, so that queries can in principle compare SNP genotypes from DNA samples of interest to STR genotype profiles that represent proposed matches. We use genetic record-matching to evaluate the possibility of testing SNP profiles obtained from poor-quality DNA samples to identify exact and relatedness matches to STR profiles. Using simulations based on whole-genome sequences, we show that in some settings, similar match accuracies to those seen with full coverage of the genome are obtained by genetic record-matching for SNP data that represent 5–10% genomic coverage. Thus, if even a fraction of random genomic SNPs can be genotyped by next-generation sequencing, then the potential may exist to test the resulting genotype profiles for matches to profiles consisting exclusively of nonoverlapping STR loci. The result has implications in relation to criminal justice, mass disasters, missing-person cases, studies of ancient DNA, and genomic privacy. Springer International Publishing 2023-08-11 2023-11 /pmc/articles/PMC10620386/ /pubmed/37567955 http://dx.doi.org/10.1038/s41431-023-01430-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Kim, Jaehee
Rosenberg, Noah A.
Record-matching of STR profiles with fragmentary genomic SNP data
title Record-matching of STR profiles with fragmentary genomic SNP data
title_full Record-matching of STR profiles with fragmentary genomic SNP data
title_fullStr Record-matching of STR profiles with fragmentary genomic SNP data
title_full_unstemmed Record-matching of STR profiles with fragmentary genomic SNP data
title_short Record-matching of STR profiles with fragmentary genomic SNP data
title_sort record-matching of str profiles with fragmentary genomic snp data
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620386/
https://www.ncbi.nlm.nih.gov/pubmed/37567955
http://dx.doi.org/10.1038/s41431-023-01430-9
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