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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Hannah C. Happ, Thomas A. Sasani, Derek Warner, Deborah W. Neklason, Aaron R. Quinlan
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2026-05-01
Цуврал:	Genome Biology
Нөхцлүүд:	Homopolymers Short tandem repeats De novo mutation Pedigrees AVITI
Онлайн хандалт:	https://doi.org/10.1186/s13059-026-04099-7
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!