TY - JOUR
T1 - Implementing a biogeographic ancestry inference service for forensic casework
AU - Jin, Soulbee
AU - Chase, Maretta
AU - Henry, Margaret
AU - Alderson, Gerry
AU - Morrow, James M.
AU - Malik, Sobia
AU - Ballard, David
AU - McGrory, Joel
AU - Fernandopulle, Neil
AU - Millman, Jonathan
AU - Laird, Jack
PY - 2018/11
Y1 - 2018/11
N2 - 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.
AB - 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.
KW - Ancestry informative SNP
KW - Biogeographic ancestry
KW - Ion S5
KW - Massively Parallel Sequencing
KW - Precision ID Ancestry Panel
UR - http://www.scopus.com/inward/record.url?scp=85052821152&partnerID=8YFLogxK
U2 - 10.1002/elps.201800171
DO - 10.1002/elps.201800171
M3 - Article
C2 - 30125362
AN - SCOPUS:85052821152
SN - 0173-0835
VL - 39
SP - 2757
EP - 2765
JO - Electrophoresis
JF - Electrophoresis
IS - 21
ER -