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Open Access 01-05-2018 | Original Article

Ancestry inference of 96 population samples using microhaplotypes

Authors: Ozlem Bulbul, Andrew J. Pakstis, Usha Soundararajan, Cemal Gurkan, Jane E. Brissenden, Janet M. Roscoe, Baigalmaa Evsanaa, Ariunaa Togtokh, Peristera Paschou, Elena L. Grigorenko, David Gurwitz, Sharon Wootton, Robert Lagace, Joseph Chang, William C. Speed, Kenneth K. Kidd

Published in: International Journal of Legal Medicine | Issue 3/2018

Abstract

Microhaplotypes have become a new type of forensic marker with a great ability to identify and deconvolute mixtures because massively parallel sequencing (MPS) allows the alleles (haplotypes) of the multi-SNP loci to be determined directly for an individual. As originally defined, a microhaplotype locus is a short segment of DNA with two or more SNPs defining three or more haplotypes. The length is short enough, less than about 300 bp, that the read length of current MPS technology can produce a phase-known sequence of each chromosome of an individual. As part of the discovery phase of our studies, data on 130 microhaplotype loci with estimates of haplotype frequency data on 83 populations have been published. To provide a better picture of global allele frequency variation, we have now tested 13 more populations for 65 of the microhaplotype loci from among those with higher levels of inter-population gene frequency variation, including 8 loci not previously published. These loci provide clear distinctions among 6 biogeographic regions and provide some information distinguishing up to 10 clusters of populations.

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Title: Ancestry inference of 96 population samples using microhaplotypes
Authors: Ozlem Bulbul
Andrew J. Pakstis
Usha Soundararajan
Cemal Gurkan
Jane E. Brissenden
Janet M. Roscoe
Baigalmaa Evsanaa
Ariunaa Togtokh
Peristera Paschou
Elena L. Grigorenko
David Gurwitz
Sharon Wootton
Robert Lagace
Joseph Chang
William C. Speed
Kenneth K. Kidd
Publication date: 01-05-2018
Publisher: Springer Berlin Heidelberg
Published in: International Journal of Legal Medicine / Issue 3/2018
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-017-1748-6

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Ancestry inference of 96 population samples using microhaplotypes

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