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Implementing a biogeographic ancestry inference service for forensic casework
Author(s) -
Jin Soulbee,
Chase Maretta,
Henry Margaret,
Alderson Gerry,
Morrow James M.,
Malik Sobia,
Ballard David,
McGrory Joel,
Fernandopulle Neil,
Millman Jonathan,
Laird Jack
Publication year - 2018
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.201800171
Subject(s) - forensic science , genetic genealogy , ancestry informative marker , inference , massive parallel sequencing , forensic anthropology , declaration , evolutionary biology , geography , biology , archaeology , demography , dna sequencing , computer science , genetics , genotype , allele frequency , population , artificial intelligence , sociology , dna , gene , programming language
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.