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...

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Bibliografiske detaljer
Main Authors: Bonita J Brewer, Maitreya J Dunham, M K Raghuraman
Format: Article
Sprog:English
Udgivet: Public Library of Science (PLoS) 2024-01-01
Serier:PLoS Genetics
Online adgang:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1011091&type=printable