Massively Parallel Sequencing: Application to Forensics

CE-based technology is a fluorescent detection-based platform that allows routine typing of short tandem repeat (STR) markers, which are the primary markers used in human genetic identity testing. In addition, a few laboratories analyze short target sequences of the mitochondrial (mtDNA) genome that provide sensitivity of detection with challenging samples. In some instances, the forensic science community has used single nucleotide polymorphisms (SNPs), which are markers well-suited for analyzing degraded samples. The CE, both robust and reliable, has been the standard method for human identity typing applications for more than 15 years; however, as with any technology, there are limitations. The recognized limitations of the CE platform include the methodology's resolution, scalability, and throughput. The extent of these limitations became apparent only with the advent of MPS technology, which excels in performance in these areas compared to CE. MPS thus improves investigative capabilities with DNA evidence. MPS has a substantially higher throughput, allowing simultaneous typing of larger sets and different types of genetic markers such as autonomic, Y-chromosome, and S-chromosome STRs; identity and ancestry informative and phenotypic SNPs; and the entire mtDNA genome. MPS technology can provide opportunities to improve current practices and provide opportunities for advancement beyond current DNA typing capabilities. 2 figures, 2 tables, 78 references, and appended literature review, author biographies, and event performance sheet for each of the four webinars on which this report is based