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Published on: June 21, 2018
Inference of recent admixture using genotype data
Peter Pfaffelhuber1, Elisabeth Sester-Huss1, Franz Baumdicker2
1Institute for Mathematics, University of Freiburg, Ernst-Zermelo-Str. 1, 79104 Freiburg, Germany.
Abstract:
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.
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