Ancestry inference of 96 population samples using microhaplotypes. / Bulbul, Ozlem; Pakstis, Andrew J.; Soundararajan, Usha; Gurkan, Cemal; Brissenden, Jane E.; Roscoe, Janet M.; Evsanaa, Baigalmaa; Togtokh, Ariunaa; Paschou, Peristera; Grigorenko, Elena L.; Gurwitz, David; Wootton, Sharon; Lagace, Robert; Chang, Joseph; Speed, William C.; Kidd, Kenneth K.
In: International Journal of Legal Medicine, Vol. 132, No. 3, 01.05.2018, p. 703-711.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - Ancestry inference of 96 population samples using microhaplotypes
AU - Bulbul, Ozlem
AU - Pakstis, Andrew J.
AU - Soundararajan, Usha
AU - Gurkan, Cemal
AU - Brissenden, Jane E.
AU - Roscoe, Janet M.
AU - Evsanaa, Baigalmaa
AU - Togtokh, Ariunaa
AU - Paschou, Peristera
AU - Grigorenko, Elena L.
AU - Gurwitz, David
AU - Wootton, Sharon
AU - Lagace, Robert
AU - Chang, Joseph
AU - Speed, William C.
AU - Kidd, Kenneth K.
PY - 2018/5/1
Y1 - 2018/5/1
N2 - 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.
AB - 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.
KW - Ancestry
KW - Forensics
KW - Massively parallel sequencing (MPS)
KW - Microhaplotype
KW - SNP
UR - http://www.scopus.com/inward/record.url?scp=85038109421&partnerID=8YFLogxK
U2 - 10.1007/s00414-017-1748-6
DO - 10.1007/s00414-017-1748-6
M3 - Article
C2 - 29248957
AN - SCOPUS:85038109421
VL - 132
SP - 703
EP - 711
JO - International Journal of Legal Medicine
JF - International Journal of Legal Medicine
SN - 0937-9827
IS - 3
ER -
ID: 36391104