AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity
Abstract 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 q...
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| Główni autorzy: | , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMC
2026-05-01
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| Seria: | Genome Biology |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s13059-026-04099-7 |
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