Genome-wide profiling of heritable and de novo STR variations.

Nat Methods
Authors
Keywords
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.

Year of Publication
2017
Journal
Nat Methods
Volume
14
Issue
6
Pages
590-592
Date Published
2017 Jun
ISSN
1548-7105
DOI
10.1038/nmeth.4267
PubMed ID
28436466
PubMed Central ID
PMC5482724
Links
Grant list
UM1 HG008901 / HG / NHGRI NIH HHS / United States