This paper provides guidance for implementing and using DNA sequencing technology, with a focus on human-specific DNA analysis applications.
Modern sequencing technology offers several improvements over traditional DNA analysis methods in providing parallel analysis of multiple marker types; improved performance with degraded DNA; increased discriminatory power and mixture resolution capability through Short Tandem Repeats (STR) sequence variant detection; capability to infer phenotype, ancestry, genealogy, or parentage; and other applications. The massive sequence output of next generation sequencing (NGS) instruments may be divided among many samples for routine testing or focused to analyze a small number of challenging evidence samples for a comprehensive analysis of many marker types. Two platforms have kits that have been accepted for use in National DNA Index System (NDIS) submissions, i.e., the Ion Torrent S5 (Thermo Fisher Scientific) and the MiSeq FGx (Verogen, Inc.). Increased complexity, reagent costs, and labor input may limit NGS use to challenging cases in which the augmentation of current STR typing methods is required. Higher throughput usage may require automation of sample preparation and add requirements for large-scale data storage infrastructure. 5 tables, 3 figures, and 5 references
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