論文

査読有り 国際誌
2017年

Development and validation of open-source software for DNA mixture interpretation based on a quantitative continuous model.

PloS one
  • Sho Manabe
  • ,
  • Chie Morimoto
  • ,
  • Yuya Hamano
  • ,
  • Shuntaro Fujimoto
  • ,
  • Keiji Tamaki

12
11
開始ページ
e0188183
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1371/journal.pone.0188183
出版者・発行元
PUBLIC LIBRARY SCIENCE

In criminal investigations, forensic scientists need to evaluate DNA mixtures. The estimation of the number of contributors and evaluation of the contribution of a person of interest (POI) from these samples are challenging. In this study, we developed a new open-source software "Kongoh" for interpreting DNA mixture based on a quantitative continuous model. The model uses quantitative information of peak heights in the DNA profile and considers the effect of artifacts and allelic drop-out. By using this software, the likelihoods of 1-4 persons' contributions are calculated, and the most optimal number of contributors is automatically determined; this differs from other open-source software. Therefore, we can eliminate the need to manually determine the number of contributors before the analysis. Kongoh also considers allele- or locus-specific effects of biological parameters based on the experimental data. We then validated Kongoh by calculating the likelihood ratio (LR) of a POI's contribution in true contributors and non-contributors by using 2-4 person mixtures analyzed through a 15 short tandem repeat typing system. Most LR values obtained from Kongoh during true-contributor testing strongly supported the POI's contribution even for small amounts or degraded DNA samples. Kongoh correctly rejected a false hypothesis in the non-contributor testing, generated reproducible LR values, and demonstrated higher accuracy of the estimated number of contributors than another software based on the quantitative continuous model. Therefore, Kongoh is useful in accurately interpreting DNA evidence like mixtures and small amounts or degraded DNA samples.

リンク情報
DOI
https://doi.org/10.1371/journal.pone.0188183
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29149210
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693437
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000415646100026&DestApp=WOS_CPL
ID情報
  • DOI : 10.1371/journal.pone.0188183
  • ISSN : 1932-6203
  • PubMed ID : 29149210
  • PubMed Central 記事ID : PMC5693437
  • Web of Science ID : WOS:000415646100026

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