Ontology highlight
ABSTRACT:
SUBMITTER: Willems T
PROVIDER: S-EPMC5482724 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Willems Thomas T Zielinski Dina D Yuan Jie J Gordon Assaf A Gymrek Melissa M Erlich Yaniv Y
Nature methods 20170424 6
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 http ...[more]