The Application of next Generation Sequencing to Str Typing and Investigative Genetics

Next-Generation Sequencing (NGS) has the potential to be the ultimate genotyping platform for human identification. NGS is capable of typing the currently important forensic markers, such as short tandem repeats (STRs), mitochondrial and Y-chromosome haplotypes. Using the same DNA sample, NGS is also capable of typing other polymorphisms including single nucleotide polymorphisms (SNPs) that can be investigatively important for DNA phenotyping and determining ancestral origin. While costs for nucleic acid sequencing have decreased dramatically, the current NGS platforms are still too expensive and too slow to be usable for routine forensic analysis. However, if sequencing costs continue on their current downward trajectory, then NGS may soon become cost-competitive with legacy forensic DNA analysis technology. Our prediction of cost-competitiveness for NGS in routine forensic applications will be at least, in part, dependent upon the acceptance of new investigative genetics assays by the forensics community, and the success in developing NGS as a usable platform for a multiplexed suite of assays. That is, if a given DNA sample is to be interrogated for STR profile using a capillary electrophoresis (CE)based assay, SNP profile by microarray assay and mtDNA by sequencing or mass spectrometry, then a single multiplexed NGS assay may be simpler, faster and cheaper.