Diversity of Human Copy Number Variation and Multicopy Genes

Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for du...

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Detalhes bibliográficos
Main Authors: Sudmant, Peter H., Kitzman, Jacob O., Antonacci, Francesca, Alkan, Can, Malig, Maika, Tsalenko, Anya, Sampas, Nick, Bruhn, Laurakay, Shendure, Jay, Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3020103/
https://ncbi.nlm.nih.gov/pubmed/21030649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1197005
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