Genome-wide profiling of heritable and de novo STR variations

• NCJ Number: 311612
• Journal: Nature Methods Volume: 14 Dated: 2017 Pages: 590-592
• Author(s): Thomas Willems; Dina Zielinski; Jie Yuan; Assaf Gordon; Melissa Gymrek; Yaniv Erlich
• Date Published: 2017
• Length: 3 pages
• Grant Number(s): 2014-DN-BX-K089
• Sponsoring Agency: National Institute of Justice (NIJ)
• Publication Format: Article
• Publication Type: Research (Applied/Empirical)
• Country: United States of America

Abstract

Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, it has proven problematic to genotype STRs from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data, and we report a genome-wide analysis and validation of de novo STR mutations. HipSTR is freely available at https://hipstr-tool.github.io/HipSTR.

(Publisher abstract provided.)