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

@entity1 @entity72847 @entity72853 @entity72852 @entity72848 @entity74 @entity72850 @entity72849 @entity72851
SNPs, abundant in @entity1 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 @entity1 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 @entity72847 with 9947A. Parameter of FMAR (%) was introduced for NGS data analysis for the first time, evaluating allelic performance, sensitivity testing and mixture testing. FMAR values for accurate heterozygotes should be range from 50% to 60%, for homozygotes or Y-SNP should be above 90%. SNPs of @entity72848 , @entity72849 , @entity72850 , @entity72851 , @entity72852 , @entity72847 and @entity72853 were recognized as poorly performing loci, either with @entity74 or with lower coverage. Sensitivity testing demonstrated that with DNA range from 10   ng-0.5   ng, all correct genotypes were obtained. For mixture testing, a clear linear correlation (R(2)   =   0.9429) between the excepted FMAR and observed FMAR values of mixtures was observed.
