bioRxivGenomics
Genome-wide profiling of heritable and de novo STR variations
Thomas WillemsiD, Dina ZielinskiiD, Assaf Gordon, Melissa GymrekiD, Yaniv ErlichiD
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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