CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data

Motivation: Several algorithms exist for detecting copy number variants (CNVs) from human exome sequencing read depth, but previous tools have not been well suited for large population studies on the order of tens or hundreds of thousands of exomes. Their limitations include being difficult to integ...

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Detalhes bibliográficos
Publicado no:Bioinformatics
Main Authors: Packer, Jonathan S., Maxwell, Evan K., O’Dushlaine, Colm, Lopez, Alexander E., Dewey, Frederick E., Chernomorsky, Rostislav, Baras, Aris, Overton, John D., Habegger, Lukas, Reid, Jeffrey G.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Applications Notes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4681995/
https://ncbi.nlm.nih.gov/pubmed/26382196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv547
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