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Article

Genome-wide detection of somatic mosaicism at short tandem repeats.

Bioinformatics (Oxford, England) - 2 Aug 2024

Sehgal Aarushi, Ziaei Jam Helyaneh, Shen Andrew, Gymrek Melissa

Abstract excerpt

MOTIVATION: Somatic mosaicism has been implicated in several developmental disorders, cancers, and other diseases. Short tandem repeats (STRs) consist of repeated sequences of 1-6 bp and comprise >1 million loci in the human genome. Somatic mosaicism at STRs is known to play a key role in the pathogenicity of loci implicated in repeat expansion disorders and is highly prevalent in cancers exhibiting...

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PMID: 39078205
DOI: 10.1093/bioinformatics/btae485
PMCID: PMC11319640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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