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Implementing a biogeographic ancestry inference service for forensic casework

Research output: Contribution to journalArticle

Soulbee Jin, Maretta Chase, Margaret Henry, Gerry Alderson, James M. Morrow, Sobia Malik, David Ballard, Joel McGrory, Neil Fernandopulle, Jonathan Millman, Jack Laird

Original languageEnglish
Pages (from-to)2757-2765
Number of pages9
JournalElectrophoresis
Volume39
Issue number21
Early online date29 Aug 2018
DOIs
Accepted/In press9 Aug 2018
E-pub ahead of print29 Aug 2018
PublishedNov 2018

King's Authors

Abstract

The Centre of Forensic Sciences has validated the Precision ID Ancestry Panel on the Ion S5™ Massively Parallel Sequencing instrument for use in forensic casework. The focus of this paper is the development of reporting guidelines for implementation of the biogeographic ancestry inference service based on the Admixture Prediction results produced using the Torrent Suite™ Software (Thermo Fisher Scientific). The Admixture Prediction algorithm estimates the genetic ancestry of a sample using seven root populations (Europe, East Asia, Oceania, America, Africa, South Asia, and Southwest Asia). For individuals that declared a single ancestry, there was a high correlation between the declared ancestry and the ancestry predicted by the algorithm. However, some individuals with declared ancestries of Southern Europe, Southwest Asia, South Asia and Horn of Africa had Admixture Predictions that were composed of two or more root populations at 20% or greater. For individuals with known admixed ancestry, the major component of their declaration was included in their results in all but one case. Based on these results, reporting guidelines were developed and subsequently evaluated using the Admixture Predictions of additional samples. This paper discusses the development and evaluation of these reporting guidelines, along with an implementation plan for forensic casework.

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