Article

A family portrait of the genomic factors shaping tandem repeat mutagenesis

2026-03-09

Abstract excerpt

Tandem repeats (TRs) are among the most mutable loci in the human genome, but the genomic determinants of TR mutagenesis remain mysterious. We used PacBio HiFi long-read sequencing to profile nearly eight million TR loci in 28 members of a large, four-generation CEPH/Utah family designated K1463. We identified 1,270 de novo TR expansions and contractions across 20 children in the pedigree. De novo mutations (DNM...

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Literature Corpus work: d1cf42b7-a394-5bc5-a116-6c6233a53874
DOI: 10.64898/2026.03.06.710071

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