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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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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 |