This report details research designed to identify and develop superior sets of single nucleotide polymorphism (SNP) markers for use in forensic applications.
Using genomic analysis expertise and unique resources to document the validity of SNP panels for specific purposes, the researchers sought to enhance ancestry informative SNP (AISNP) panels to provide more robust differentiation among populations for accurate estimation of ancestral origin at geographic levels, and identify and characterize additional microhaplotypes (microhaps) that can be genotyped by massively parallel sequencing. Over 2,500 individuals from 57 distinct population samples from publicly available data and laboratory resources were genotyped as candidate loci. Based on genomic evaluation in these populations, and previously established cell lines, the more promising markers were tested on additional population samples and data analyses identified candidate markers best suited for various forensic applications. Analysis of the SNPs is ongoing, and over 1,000 DNA cell-lines have been added to an existing database of over 600,000 SNPs representing 2,500 individuals allowing for the identification of markers to distinguish new population groups. To date, 182 microhaps have been characterized on 57 core lab populations, and more than 225 candidate microhaps have been analyzed (25 have been discarded based on preliminary data). Microhap collection and analysis is ongoing for a dozen new populations from Southwest Asia, North Africa, and Central Asia. This future work will increase the number of highly informative microhaps for mixture deconvolution and ancestry inference. The work on developing AISNPs in the form of microhaps is useful for many investigative purposes, mass disaster situations in which ethnicity and extended family matching may be required, and in aspects of anthropology and research in human evolution.
Date Published: May 1, 2019