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Article

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

Nature methods - 1 Jun 2017

Willems Thomas, Zielinski Dina, Yuan Jie, Gordon Assaf, Gymrek Melissa, Erlich Yaniv

Abstract excerpt

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...

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Identifiers

PMID: 28436466
DOI: 10.1038/nmeth.4267
PMCID: PMC5482724

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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