NCJ Number
311612
Journal
Nature Methods Volume: 14 Dated: 2017 Pages: 590-592
Date Published
2017
Length
3 pages
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.)
Date Published: January 1, 2017
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