Beyond the STRs: A comprehensive view of current forensic DNA markers characterized in the PCR-based DNA profiling standard SRM 2391D

Abstract

Capillary electrophoresis (CE) of the Combined DNA Index System (CODIS) core set of 20 Short Tandem Repeat (STR) markers [1] is the primary genotyping method for forensic human identification in the U.S. With the emergence of new technologies beyond CE testing, other categories of forensic DNA markers are now more readily available. The next iteration of the PCR-Based DNA Profiling Standard Reference Material, SRM 2391d, will contain allele calls and sequence information for forensically relevant markers available in commercial kits. The SRM components will be characterized using CE and next-generation sequencing (NGS). With NGS technology, more data can be mined from these reference samples than previous generations of this SRM. This paper will focus on data from the forensic DNA markers beyond the common autosomal, Y-STR, and X-STR markers to include: insertion/deletions, ancestry single nucleotide polymorphisms (SNPs), identity SNPs, phenotypic SNPs, microhaplotypes and mitochondrial whole genome sequencing. The primary emphasis will be an analysis of the information gained from using NGS vs CE technology with the reference samples going “Beyond the STRs”.