RT Journal Article SR Electronic T1 Genome-wide profiling of heritable and de novo STR variations JF bioRxiv FD Cold Spring Harbor Laboratory SP 077727 DO 10.1101/077727 A1 Thomas Willems A1 Dina Zielinski A1 Assaf Gordon A1 Melissa Gymrek A1 Yaniv Erlich YR 2016 UL http://biorxiv.org/content/early/2016/09/27/077727.abstract AB Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping, haplotyping, and phasing STRs from whole genome sequencing data and report a genome-wide analysis and validation of de novo STR mutations.