Parallel Analysis of 124 Universal SNPs for Human Identification by Targeted Semiconductor Sequencing.

ABSTRACT: SNPs, abundant in human genome with lower mutation rate, are attractive to genetic application like forensic, anthropological and evolutionary studies. Universal SNPs showing little allelic frequency variation among populations while remaining highly informative for human identification were obtained from previous studies. However, genotyping tools target only dozens of markers simultaneously, limiting their applications. Here, 124 SNPs were simultaneous tested using Ampliseq technology with Ion Torrent PGM platform. Concordance study was performed with 2 reference samples of 9947A and 9948 between NGS and Sanger sequencing. Full concordance were obtained except genotype of rs576261 with 9947A. Parameter of FMAR (%) was introduced for NGS data analysis for the first time, evaluating alleli

SUBMITTER: Zhang S 

PROVIDER: S-EPMC4687036 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature