Pfaffelhuber Peter, Sester-Huss Elisabeth, Baumdicker Franz, Naue Jana, Lutz-Bonengel Sabine, Staubach Fabian
Institute for Mathematics, University of Freiburg, Ernst-Zermelo-Str. 1, 79104 Freiburg, Germany.
Institute for Mathematics, University of Freiburg, Ernst-Zermelo-Str. 1, 79104 Freiburg, Germany.
Forensic Sci Int Genet. 2022 Jan;56:102593. doi: 10.1016/j.fsigen.2021.102593. Epub 2021 Sep 20.
The inference of biogeographic ancestry (BGA) has become a focus of forensic genetics. Misinference of BGA can have profound unwanted consequences for investigations and society. We show that recent admixture can lead to misclassification and erroneous inference of ancestry proportions, using state of the art analysis tools with (i) simulations, (ii) 1000 genomes project data, and (iii) two individuals analyzed using the ForenSeq DNA Signature Prep Kit. Subsequently, we extend existing tools for estimation of individual ancestry (IA) by allowing for different IA in both parents, leading to estimates of parental individual ancestry (PIA), and a statistical test for recent admixture. Estimation of PIA outperforms IA in most scenarios of recent admixture. Furthermore, additional information about parental ancestry can be acquired with PIA that may guide casework.
生物地理血统（BGA）推断已成为法医遗传学的一个焦点。BGA的错误推断可能会给调查和社会带来深远的不良后果。我们使用先进的分析工具，通过（i）模拟、（ii）千人基因组计划数据以及（iii）使用ForenSeq DNA Signature Prep Kit分析的两个个体，表明近期的混合可能导致祖先比例的错误分类和错误推断。随后，我们扩展了现有的个体血统（IA）估计工具，允许父母双方具有不同的IA，从而得出父母个体血统（PIA）的估计值，以及针对近期混合的统计检验。在大多数近期混合的情况下，PIA估计优于IA估计。此外，通过PIA可以获取有关父母血统的额外信息，这可能会指导实际案件工作。
