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关于低覆盖度测序的法医似然比

On forensic likelihood ratios from low-coverage sequencing.

作者信息

Ouerghi Feriel, Krane Dan E, Edge Michael D

机构信息

Department of Quantitative and Computational Biology, University of Southern California.

Department of Biological Sciences, Wright State University.

出版信息

bioRxiv. 2024 Nov 24:2024.05.24.595821. doi: 10.1101/2024.05.24.595821.

DOI:10.1101/2024.05.24.595821
PMID:38854110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11160658/
Abstract

Advances in sequencing technology are allowing forensic scientists to access genetic information from increasingly challenging samples. A recently published computational approach, IBDGem, analyzes sequencing reads, including from low-coverage samples, in order to arrive at likelihood ratios for human identification. Here, we show that likelihood ratios produced by IBDGem are best interpreted as testing a null hypothesis different from the traditional one used in a forensic genetics context. In particular, rather than testing the hypothesis that the sample comes from a person unrelated to the person of interest, IBDGem tests the hypothesis that the sample comes from an individual who is included in the reference database used to run the method. This null hypothesis is not generally of forensic interest, because the defense hypothesis is not typically that the evidence comes from an individual included in a reference database. Moreover, the computed likelihood ratios can be much larger than likelihood ratios computed for the standard forensic null hypothesis, often by many orders of magnitude, thus potentially creating an impression of stronger evidence for identity than is warranted. We lay out this result and illustrate it with examples, giving suggestions for directions that might lead to likelihood ratios that test the typical defense hypothesis.

摘要

测序技术的进步使法医科学家能够从越来越具挑战性的样本中获取遗传信息。最近发表的一种计算方法IBDGem,可分析测序读数,包括来自低覆盖度样本的读数,以便得出用于人类身份识别的似然比。在此,我们表明IBDGem产生的似然比最好解释为对一个与法医遗传学背景中使用的传统零假设不同的零假设进行检验。具体而言,IBDGem不是检验样本来自与感兴趣的人无关的人的假设,而是检验样本来自用于运行该方法的参考数据库中所包含的个体的假设。这个零假设通常并非法医所关注的,因为辩方假设通常不是证据来自参考数据库中所包含的个体。此外,计算出的似然比可能比为标准法医零假设计算的似然比大得多,通常相差许多数量级,从而可能给人一种身份认定证据比实际更有力的印象。我们阐述了这一结果并用实例进行说明,为可能得出检验典型辩方假设的似然比的方向提供了建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/df7de8cb1157/nihpp-2024.05.24.595821v2-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/a0909916f179/nihpp-2024.05.24.595821v2-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/19bfa809fddf/nihpp-2024.05.24.595821v2-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/3b8770090dd3/nihpp-2024.05.24.595821v2-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/101751678f63/nihpp-2024.05.24.595821v2-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/df7de8cb1157/nihpp-2024.05.24.595821v2-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/a0909916f179/nihpp-2024.05.24.595821v2-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/19bfa809fddf/nihpp-2024.05.24.595821v2-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/3b8770090dd3/nihpp-2024.05.24.595821v2-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/101751678f63/nihpp-2024.05.24.595821v2-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/243b/11589940/df7de8cb1157/nihpp-2024.05.24.595821v2-f0005.jpg

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