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Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing

The human genome contains hundreds of low-copy repeats (LCRs) that are challenging to analyze using short-read sequencing technologies due to extensive copy number variation and ambiguity in read mapping. Copy number and sequence variants in more than 150 duplicated genes that overlap LCRs have been...

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Detalles Bibliográficos
Autores principales: Prodanov, Timofey, Bansal, Vikas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184528/
https://www.ncbi.nlm.nih.gov/pubmed/35680869
http://dx.doi.org/10.1038/s41467-022-30930-3