A comparison of likelihood ratios obtained from EuroForMix and STRmix™

A comparison of likelihood ratios obtained from EuroForMix and STRmix™
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从 EuroForMix 和 STRmix™ 获得的似然比的比较

DOI:
10.1111/1556-4029.14886
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发表时间:
2021
影响因子:
1.6
通讯作者:
J. Buckleton
J. Buckleton
中科院分区:
医学4区
文献类型:
--
作者:
Kevin Cheng;Ø. Bleka;P. Gill;J. Curran;J. Bright;Duncan A. Taylor;J. Buckleton

文献摘要

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检验了概率基因分型软件EuroForMix和STRmix™之间的似然比(LR)差异。在考虑了等位基因概率的差异后,两种软件对明确的单源谱的LRs是相同的(四个有效数字)。当θ = 0.01时,两种软件对具有等位基因频率数据库中未见的等位基因(罕见等位基因)的明确单源谱的LRs是相同的(三个有效数字)。由于最小等位基因频率的差异,当θ = 0时,LRs相差3个数量级。对于这两种软件,单源稀释系列的LRs随着输入量的减少而减少。两个软件的LRs都在已知贡献者的一个数量级内。在目标输入量为0.0156 ng时差异最大:LREuroForMix为2.1 × 1025, LRSTRmix为8.0 × 1024。两种软件在混合比方面表现出相似的LR行为。对于两个人的混合物,当比例远离1:1时,大调和小调的LR都增加了。大调的LR稳定在3:1左右,小调的LR在3:1左右达到最大值,然后下降。在EuroForMix和STRmix™混合物中观察到更大的LR差异。对PROVEDIt数据集中的129种混合物进行了比较。在没有罕见等位基因的已知贡献者的比较中,84%的LRs在两个数量级以内。研究了五个不同的结果,并在适当的地方采用了人工干预方法。
Likelihood ratios (LR) differences between the probabilistic genotyping software EuroForMix and STRmix™ are examined. After considering differences in the allele probabilities, the LRs from both software for an unambiguous single‐source profile were identical (four significant figures). LRs from both software for an unambiguous single‐source profile with alleles previously unseen in the allele frequency database (rare alleles) were the same (three significant figures) for θ = 0.01. Due to differences in the minimum allele frequencies, the LRs differed by three orders of magnitude when θ = 0. For both software, the LRs for a single‐source dilution series decreased as the input amount decreased. The LRs from both software were within an order of magnitude for known contributors. The largest difference was where the target input amount was 0.0156 ng: The LREuroForMix was 2.1 × 1025 and the LRSTRmix was 8.0 × 1024. Both software show similar LR behavior with respect to mixture ratio. For two person mixtures the LR increases for both the major and the minor as the ratio moves away from 1:1. The LR for the major stabilizes at about 3:1 whereas the LR for the minor reaches its maximum at about 3:1 and then declines. Greater differences in LR were observed between EuroForMix and STRmix™ for mixtures. One‐hundred and twenty‐nine mixtures from the PROVEDIt dataset were compared. LRs for 84% of the comparisons for known contributors without rare alleles were within two orders of magnitude. Five divergent results were investigated, and a manual intervention approach was applied where appropriate.