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STRSeq: A catalog of sequence diversity at human identification Short Tandem Repeat loci

Published

Author(s)

Katherine B. Gettings, Lisa A. Borsuk, D Ballard, Martin Bodner, Bruce Budowle, Laurence Devesse, Jonathan King, W. Parson, Christopher Phillips, Peter M. Vallone

Abstract

The STR Sequencing Project (STRSeq) was initiated to facilitate the description of sequence- based alleles at the Short Tandem Repeat (STR) loci targeted in human identification assays. This international collaborative effort, which has been endorsed by the ISFG DNA Commission, provides a framework for communication among laboratories. The initial data used to populate the project are the aggregate alleles observed in targeted sequencing studies across four laboratories: National Institute of Standards and Technology (N=1786), Kings College London (N=1043), University of North Texas Health Sciences Center (N=839), and University of Santiago de Compostela (N=944), for a total of 4612 individuals. STRSeq data are maintained as GenBank records at the U.S. National Center for Biotechnology Information (NCBI), which participates in a daily data exchange with the DNA DataBank of Japan (DDBJ) and the European Nucleotide Archive (ENA). Each GenBank record contains: (a) the observed sequence of a STR region, (b) annotation (“bracketing”) of the repeat region and flanking region polymorphisms, (c) information regarding the sequencing assay and data quality, and (d) backward compatible length-based allele designation. STRSeq GenBank records are organized within a BioProject at NCBI (https://www.ncbi.nlm.nih.gov/bioproject/380127), which is sub-divided into: commonly used autosomal STRs, alternate autosomal STRs, Y-chromosomal STRs, and X-chromosomal STRs. Each of these categories is further divided into locus-specific BioProjects. The BioProject hierarchy facilitates access to the GenBank records by browsing, BLAST searching, or ftp download. Future plans include user interface tools at strseq.nist.gov, a pathway for submission of additional allele records by laboratories performing population sample sequencing and interaction with the STRidER web portal for quality control (https://strider.online).
Citation
Forensic Science International: Genetics
Volume
31

Keywords

Forensic, DNA, STR, Sequencing, NGS
Created November 1, 2017, Updated February 13, 2020