Article

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

2025-09-25

Abstract excerpt

<h4>Background</h4> 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. <h4>Results</h4>...

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Literature Corpus work: cddeb9d8-0e3e-5936-88aa-310ad8e494a4
DOI: 10.1101/2025.09.25.678675

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AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexityDOI 10.1101/2025.09.25.678675Read

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