A unifying model that explains the origins of human inverted copy number variants.

With the release of the telomere-to-telomere human genome sequence and the availability of both long-read sequencing and optical genome mapping techniques, the identification of copy number variants (CNVs) and other structural variants is providing new insights into human genetic disease. Different...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Bonita J Brewer, Maitreya J Dunham, M K Raghuraman
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: Public Library of Science (PLoS) 2024-01-01
Цуврал:PLoS Genetics
Онлайн хандалт:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1011091&type=printable