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

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.

SUBMITTER: Willems T

PROVIDER: S-EPMC5482724 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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

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]

PMID: 28436466

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