Abstract
SNP profiling is a very powerful tool for human identification. Two panels of 49 and 41 SNPs were selected based on high average heterozygosity (>0.4) and low global Fst values (<0.06) as a set of highly discriminative SNPs suitable for human identification in all geographic populations. SNPs were selected based on testing samples from 44 populations across the globe using TaqMan ® allelic discrimination formats. Coding SNPs, and SNPs with known functional or phenotypic manifestations were excluded. To test the performance characteristics of the two panels of SNPs and to compare their utility to STR analysis for human identification and paternity testing, we genotyped a panel of 41 individuals from three different CEPH families spanning three generations. The test samples were genotyped using the two SNP panels and a 15-loci STR kit. Further, utility of the SNP panels in human ID testing and related applications was demonstrated using degraded DNA and DNA from blood, semen and saliva samples. The development of highly multiplexed SNP detection systems enabling lower cost and higher throughput via automation will result in increased use of SNP profiling in applications like human identification, cell line authentication, species identification and bacterial strain typing.
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