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Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity

Forensic investigation of DNA samples from multiple contributors has become commonplace. These complex analyses use statistical frameworks accounting for multiple levels of uncertainty in allelic contributions from different individuals, particularly for samples containing few molecules of DNA. Thes...

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Autores principales: Flores, Maria, Ly, Cara, Ho, Evan, Ceberio, Niquo, Felix, Kamillah, Thorner, Hannah Mariko, Guardado, Miguel, Paunovich, Matt, Godek, Chris, Kalaydjian, Carina, Rohlfs, Rori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515773/
https://www.ncbi.nlm.nih.gov/pubmed/37745566
http://dx.doi.org/10.1101/2023.08.25.554311
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author Flores, Maria
Ly, Cara
Ho, Evan
Ceberio, Niquo
Felix, Kamillah
Thorner, Hannah Mariko
Guardado, Miguel
Paunovich, Matt
Godek, Chris
Kalaydjian, Carina
Rohlfs, Rori
author_facet Flores, Maria
Ly, Cara
Ho, Evan
Ceberio, Niquo
Felix, Kamillah
Thorner, Hannah Mariko
Guardado, Miguel
Paunovich, Matt
Godek, Chris
Kalaydjian, Carina
Rohlfs, Rori
author_sort Flores, Maria
collection PubMed
description Forensic investigation of DNA samples from multiple contributors has become commonplace. These complex analyses use statistical frameworks accounting for multiple levels of uncertainty in allelic contributions from different individuals, particularly for samples containing few molecules of DNA. These methods have been thoroughly tested along some axes of variation, but less attention has been paid to accuracy across human genetic variation. Here, we quantify the accuracy of DNA mixture analysis over 244 human groups. We find higher false inclusion rates for mixtures with more contributors, and for groups with lower genetic diversity. Even for two-contributor mixtures where one contributor is known and the reference group is correctly specified, false inclusion rates are 1e-5 or higher for 56 out of 244 groups. This means that, depending on multiple testing, some false inclusions may be expected. These false positives could be lessened with more selective and conservative use of DNA mixture analysis.
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spelling pubmed-105157732023-09-23 Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity Flores, Maria Ly, Cara Ho, Evan Ceberio, Niquo Felix, Kamillah Thorner, Hannah Mariko Guardado, Miguel Paunovich, Matt Godek, Chris Kalaydjian, Carina Rohlfs, Rori bioRxiv Article Forensic investigation of DNA samples from multiple contributors has become commonplace. These complex analyses use statistical frameworks accounting for multiple levels of uncertainty in allelic contributions from different individuals, particularly for samples containing few molecules of DNA. These methods have been thoroughly tested along some axes of variation, but less attention has been paid to accuracy across human genetic variation. Here, we quantify the accuracy of DNA mixture analysis over 244 human groups. We find higher false inclusion rates for mixtures with more contributors, and for groups with lower genetic diversity. Even for two-contributor mixtures where one contributor is known and the reference group is correctly specified, false inclusion rates are 1e-5 or higher for 56 out of 244 groups. This means that, depending on multiple testing, some false inclusions may be expected. These false positives could be lessened with more selective and conservative use of DNA mixture analysis. Cold Spring Harbor Laboratory 2023-09-14 /pmc/articles/PMC10515773/ /pubmed/37745566 http://dx.doi.org/10.1101/2023.08.25.554311 Text en https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (https://creativecommons.org/licenses/by-nc/4.0/) , which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator.
spellingShingle Article
Flores, Maria
Ly, Cara
Ho, Evan
Ceberio, Niquo
Felix, Kamillah
Thorner, Hannah Mariko
Guardado, Miguel
Paunovich, Matt
Godek, Chris
Kalaydjian, Carina
Rohlfs, Rori
Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity
title Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity
title_full Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity
title_fullStr Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity
title_full_unstemmed Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity
title_short Decreased accuracy of forensic DNA mixture analysis for groups with lower genetic diversity
title_sort decreased accuracy of forensic dna mixture analysis for groups with lower genetic diversity
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515773/
https://www.ncbi.nlm.nih.gov/pubmed/37745566
http://dx.doi.org/10.1101/2023.08.25.554311
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