Ancestry inference of 96 population samples using microhaplotypes

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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)703-711
Number of pages9
JournalInternational Journal of Legal Medicine
Issue number3
StatePublished - 1 May 2018


  • Ancestry
  • Forensics
  • Massively parallel sequencing (MPS)
  • Microhaplotype
  • SNP


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