ArticleGenome biology2026
AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.
Article in Genome biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- A family portrait of the genomic factors shaping tandem repeat mutagenesis.bioRxiv : the preprint server for biology · 2026Article
- A complete human pancreatic cancer genome.bioRxiv : the preprint server for biology · 2026Article
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Abstract
backgroundShort 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.
resultsWe use the Element Biosciences AVITI platform to sequence the genomes of a 48-member, four-generation CEPH/Utah pedigree. The AVITI platform reduces error rates at repetitive sequences compared to Illumina allowing accurate mutation discovery at 90% of assayed homopolymers and a 1.7-fold increase in discoverable mutations. We identify a median of 35 homopolymer de novo mutations (DNMs) per trio and a mutation rate of 5.28 × 10⁻
conclusionsThis study confirms that homopolymers exhibit lower mutation rates and lack strong paternal age effects compared to other STRs. Our set of high-quality mutations suggest these phenomena are biological rather than technical in nature. Finally, we demonstrate that AVITI sequencing unlocks previously intractable regions of the genome and will be a powerful tool for investigation of repeat mutation.
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