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Article

Interpreting short tandem repeat variations in humans using mutational constraint.

Nature genetics - 1 Oct 2017

Gymrek Melissa, Willems Thomas, Reich David, Erlich Yaniv

Abstract excerpt

Identifying regions of the genome that are depleted of mutations can distinguish potentially deleterious variants. Short tandem repeats (STRs), also known as microsatellites, are among the largest contributors of de novo mutations in humans. However, per-locus studies of STR mutations have been limited to highly ascertained panels of several dozen loci. Here we harnessed bioinformatics tools and a novel...

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Identifiers

PMID: 28892063
DOI: 10.1038/ng.3952
PMCID: PMC5679271

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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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