STRSeq: A Catalog of Sequence Diversity at Human Identification Short Tandem Repeat Loci

• NCJ Number: 253223
• Journal: Forensic Science International-Genetics Volume: 31 Dated: November 2017 Pages: 111-117
• Author(s): Katherine B. Gettings; Lisa A. Borsuk; David Ballard; Martin Bodner; Bruce Budowle; Laurence Devesse; Jonathan King; Walther Parson; Christopher Phillips; Peter M. Vallone
• Date Published: November 2017
• Length: 7 pages
• Grant Number(s): 2015-DN-BX-K067; 2016-DNR-6150
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical); Report (Study/Research); Report (Grant Sponsored); Program/Project Description
• Award: Enhancing Mixture Interpretation with Highly Informative STRs; Development of NGS (next generation sequencing) nomenclature framework

Annotation

This article profiles the STR Sequencing Project (STRSeq), which was initiated to facilitate the description of sequence-based alleles at the Short Tandem Repeat (STR) loci targeted in human identification assays.

Abstract

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 the observed sequence of a STR region, annotation ("bracketing") of the repeat region and flanking region polymorphisms, information regarding the sequencing assay and data quality, and 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 (http://strider.online). (publisher abstract modified)