Increasing the Reference Populations for the 55 AISNP Panel: the Need and Benefits

• NCJ Number: 252367
• Journal: International Journal of Legal Medicine Volume: 131 Issue: 4 Dated: July 2017 Pages: 913-917
• Author(s): Andrew J. Pakstis; Longli Kang; Lijun Liu; Zhiying Zhang; Tianbo Jin; Elena L. Grigorenko; Frank R. Wendt; Bruce Budowle; Sibte Hadi; Mariam S. al Qahtani; Niels Morling; Helle Smidt Mogensen; Goncalo E. Themudo; Usha Soundararajan; Haseena Rajeevan; Judith R. Kidd; Kenneth K. Kidd
• Date Published: July 2017
• Length: 5 pages
• Grant Number(s): 2013-DN-BX-K023; 2014-DN-BX-K030
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical)
• Award: Continued Development of FROG-kb: A Forensic Resource/Reference on Genetics knowledge base; High resolution SNP panels for forensic identification of ancestry, family, and phenotype.

Annotation

This project added reference population allele frequencies for 14 additional population samples (with just over 1,100 individuals studied) to the 125 population samples previously published for the Kidd Lab 55 AISNP panel.

Abstract

Ancestry inference for an individual can only be as good as the reference populations with allele frequency data on the SNPs being used. If the most relevant ancestral population(s) does not have data available for the SNPs studied, then analyses based on DNA evidence may indicate a distantly related population, albeit one among the more closely related of the existing reference populations. Due to the current project, allele frequencies are now publicly available for all 55 SNPs in ALFRED and FROG-kb, yielding a total of 139 population samples. This Kidd Lab panel of 55 ancestry informative SNPs has been incorporated in commercial kits by both ThermoFisher Scientific and Illumina for massively parallel sequencing. Researchers using those kits will find the enhanced set of reference populations useful. (Publisher abstract modified)