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bioRxiv · 10.1101/077727

Genome-wide profiling of heritable and de novo STR variations

Thomas Willems·Dina Zielinski·Assaf Gordon·Melissa Gymrek·Yaniv Erlich
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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, 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.

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Thomas Willems, Dina Zielinski, Assaf Gordon, Melissa Gymrek, Yaniv Erlich. 2016-09-27. Genome-wide profiling of heritable and de novo STR variations. https://doi.org/10.1101/077727

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