This paper examines the usefulness of next generation sequencing instruments for forensic case workflows; it is organized into sections including an executive summary, description and overview, an examination of how NGS works and its advantages for DNA analysis, a cost-benefit analysis of NGS that examines several aspects of its implementation, considerations of a Validation Plan, resources cited, further reading, and three appendixes.
Considering the important role of DNA analysis in forensic investigations, this paper examines capillary electrophoresis (CE) as the most widely used method for investigators to genotype Short Tandem Repeats (STRs). The paper discusses the process of CE-based forensic investigation methods, noting that CE is ultimately limited to the number of loci that can fit into an instrument’s window and results in limitations for analysis; it considers the contemporary DNA sequencing technology known as next generation sequencing (NGS), or massively parallel sequencing, which involves an updated approach as well as instrumentation that enables the simultaneous analysis of large amounts of genetic information. The paper examines how NGS works and its advantages for DNA analysis and forensic investigators, comparing CE and NGS workflows. The paper also provides a cost-benefit analysis of NGS, discussing the estimated cost of instrumentation and facility requirements, personnel requirements, potential funding sources, pros and cons of NGS, implications for current forensic casework, and the communication of return on investment to stakeholders. The document also discusses Validation Guidelines for DNA Analysis Methods, which were revised to address NGS technologies. The three appendix documents include: Marker Types and Applications; Examples of STR Analysis Software Output; and Links to NGS Instrument Information.
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