Development of NGS (next generation sequencing) nomenclature framework

This project will support efforts by NIST Applied Genetics Group (AGG) to assess new technologies, primarily: (1) evaluation of commercially available and beta version assays and software designed for NGS of forensic DNA samples, (2) characterization of noise and artifacts in NGS workflows, and (3) aiding the development of NGS nomenclature framework.

For the past two years, AGG scientists have been beta testing NGS assays designed for use In forensic DNA assays for Thermo Fisher (SNP panels now marketed as Precision ID), Illumina {ForanSeq).and Promega (PowerSeq System to be released in Q4 2016), With access to >1000 samples representative of U.S. populations which have been well characterized at STR loci by CE and increasingly by NGS, the AGG at NIST is uniquely poised to beta test not only issues of usability, but also concordance across platforms and technologies. AGG scientists will beta test SNP loci in new versions of these assays and/or similar pre-release products for concordance and utility in specific applications (such as degraded samples for individually identifying SNPs and biogeographical ancestry prediction in the case of ancestry informative SNPs). AGG scientists and staff bioinformatician will evaluate software accompanying the assays In addition to developing agnostic methods which allow for bioinformatic concordance checks. Lastly, AGG scientists will use commercially available assays to characterize NIST standard reference materials which are of use to forensic DNA laboratories as an aid during validation and quality system checks. Publications and presentations of past similar work can be found at http://www.cstl.nist.gov/strbase/NISTpub.htm. This effort will continue with the impending acquisition of an Ion Torrent S5 by the AGG and an early access agreement in place with Thermo Fisher (allowing for beta testing microhaplotype assay utility), along with other vendors as products are developed or improved. Deliverables are journal publications and presentations to the forensic community.

NIST scientists are working with staff scientists at NCBI to develop such standardized records that can be distributed to the forensic community by leveraging NCBIinfrastructure. This project is called STRSeq, and the basic framework can be accessed at https://www.ncbi.nlm.nih.gov/bioproject/380127. Overall, the transition from the current capillary electrophoresis STRtyping technology to NGS will result in a more discriminating marker system, which is expected to improve public safety by providing more powerful statistics and greater ability to differentiate individual contributors to DNA mixtures. NISTscientists will create properly formatted, permanent records based on published data. It is expected that approximately 2000 records will be created in the next two years, and the catalog will serve as a backbone for software development and as a future resource to facilitate interlaboratory communication. In addition to uploading the catalog to the NCBI BioProject, NIST scientists also plan to develop customized tools for the forensic user at strseq.nist.gov, to improve access.