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.
Highlights
Microhaplotypes have great ability to identify and deconvolute mixtures because massively parallel sequencing (MPS) allows the alleles of the multi-SNP loci to be determined directly for an individual [1]
We recently published on 130 microhaplotypes that we have identified and have characterized in 83 populations from around the world [1]
We have emphasized ancestral origins, but we note that this set of 65 microhaplotypes spread across 21 human autosomes can be very useful for mixture deconvolution, familial inference, and individualization as well
Summary
Microhaplotypes have 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 [1]. The loci are designed to be typed with MPS, which can determine, for sequences of up to about 300 bp, the specific combination of SNP alleles on each of the parental chromosomes of an individual. MPS provides phase-known data, in contrast to conventional Sanger sequencing, at any locus with two or more heterozygous SNPs. Microhaplotype loci have several desirable characteristics including, by definition, multiple alleles. Sets of microhaplotype loci can be optimized to be useful for individual identification, determining biological relationships, providing information on particular phenotypes, providing information on biogeographic ancestry, or, as noted above, deconvolution of a mixture
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