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Article

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.

Genome biology - 9 May 2026

Happ Hannah C, Sasani Thomas A, Warner Derek, Neklason Deborah W, Quinlan Aaron R

Abstract excerpt

BACKGROUND: Short tandem repeats (STRs) and homopolymers are among the most mutable loci in the human genome. Despite their presumed mutability owing to replication slippage, homopolymer loci exhibit lower mutation rates and minimal paternal age effects compared to other STRs. This paradox questions if technical limitations, rather than biological mechanisms, explain these observations. RESULTS: We use the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42104479
DOI: 10.1186/s13059-026-04099-7
PMCID: PMC13330187

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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