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"The devil's in the detail": Release of an expanded, enhanced and dynamically revised forensic STR Sequence Guide

Published

Author(s)

Christopher Phillips, Katherine Gettings, Jonathan King, David Ballard, Martin Bodner, Lisa Borsuk, Walther Parson

Abstract

The STR sequence template file published in 2016 as part of the considerations from the DNA Commission of theInternational Society for Forensic Genetics on minimal STR sequence nomenclature requirements, has been comprehensively revised and audited using the latest GRCh38 genome assembly. The list of forensic STRscharacterized was expanded by including supplementary autosomal, X- and Y-chromosome microsatellites in less common use for routine DNA profiling, but some likely to be adopted in future massively parallel sequencing(MPS) STR panels. We outline several aspects of sequence alignment and annotation that required care and attention to detail when comparing sequences to GRCh37 and GRCh38 assemblies, as well as the necessary matching of MPS-based allele descriptions to previously established repeat region structures described in initial sequencing studies of the less well known forensic STRs. The revised sequence guide is now available in a dynamically updated FTP format from the STRidER website with a date-stamped change log to allow users to explore their own MPS data with the most up-to-date forensic STR sequence information compiled in a simple guide.
Citation
Forensic Science International: Genetics

Keywords

Massively parallel sequencing MPS, Short tandem repeat STR, Indels, SNPs, dbSNP, Sequence alignment

Citation

Phillips, C. , Gettings, K. , King, J. , Ballard, D. , Bodner, M. , Borsuk, L. and Parson, W. (2021), "The devil's in the detail": Release of an expanded, enhanced and dynamically revised forensic STR Sequence Guide, Forensic Science International: Genetics (Accessed September 22, 2021)
Created May 13, 2021