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Increasing the reference populations for the 55 AISNP panel: the need and benefits |
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| Authors: | Pakstis Andrew J Kang Longli Liu Lijun Zhang Zhiying Jin Tianbo Grigorenko Elena L Wendt Frank R Budowle Bruce Hadi Sibte Al Qahtani Mariam Salam Morling Niels Mogensen Helle Smidt Themudo Goncalo E Soundararajan Usha Rajeevan Haseena Kidd Judith R Kidd Kenneth K |
| Institution: | 1.Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA ;2.Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China ;3.Key Laboratory of High Altitude Environment and Genes Related to Disease of Tibet Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China ;4.Department of Psychology, University of Houston, Houston, TX, 77204, USA ;5.Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA ;6.Institute of Molecular Medicine, University of North Texas Health Science Center, 3500 Camp Bowie Blvd, Fort Worth, TX, 76107, USA ;7.Center for Human Identification, University of North Texas Health Science Center, 3500 Camp Bowie Blvd, Fort Worth, TX, 76107, USA ;8.Center of Excellence in Genomic Medicine Research, King Abdelaziz University, Jeddah, Saudi Arabia ;9.School of Forensic & Applied Sciences, University of Central Lancashire, Preston, UK ;10.Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, DK-2100, Copenhagen, Denmark ; |
| 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 quite distantly related population, albeit one among the more closely related of the existing reference populations. We have added reference population allele frequencies for 14 additional population samples (with >1100 individuals studied) to the 125 population samples previously published for the Kidd Lab 55 AISNP panel. Allele frequencies are now publicly available for all 55 SNPs in ALFRED and FROG-kb for 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 employing those kits will find the enhanced set of reference populations useful. |
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