The study of 95 identity SNPs for Qatari population using massively parallel sequencing (MPS)

Abstract

For the last three decades, Short Tandem Repeat (STR) markers and capillary electrophoresis-based DNA sequencers have been the gold standard technology for human identification testing in the forensic field. All laboratories globally, including the Forensic Laboratory, have strategies in place for streamlined processing of high numbers of reference and casework samples, using instrumentation and technologies to maximize output using capillary electrophoresis (CE) based technology so far. Massoive Parallel Sequencing (MPS) technology has enabled sequencing of several types of genetic loci in one multiplex including single nucleotide polymorphisms (SNPs) and STRs. including the STRs using commonly in CE based flourescent multiplex kits. Therefore MPS has the potential to replace CE based technology. One hundred and fifty (150) reference samples from Qatari population were profiled using the ForenSeq™ DNA Signature kit. The data generated through MPS were analysed using ForenSeq™ Universal software and STRait Razor V3 for the primary, secondary and tertiary analyses. The average read depth was 20,000 reads for all sequencing runs. The analyses of the sequence of alleles in STRait Razor software were able to determine novel alleles in the Identntiy SNPs loci. The Qatari population has been a melting pot of various populations and this forensic study was the first of its kind to generate new data on the genetics of Qatari population. The 95 identity SNPs allele frequency data for 150 samples were analysed. The results have clearly demonstrated the potential use of MPS methods to study the genetics of Qatari population.