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Article

The mutational dynamics of short tandem repeats in large, multigenerational families.

Genome biology - 12 Dec 2022

Steely Cody J, Watkins W Scott, Baird Lisa, Jorde Lynn B

Abstract excerpt

BACKGROUND: Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that...

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Identifiers

PMID: 36510265
DOI: 10.1186/s13059-022-02818-4
PMCID: PMC9743774

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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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