Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.

Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of events harbored in each personal genome. Conventional determination of phenotypic relevance relies on patterns of higher frequency in affected individuals versus controls; howev...

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Detalhes bibliográficos
Main Authors: Ian M Campbell, Mitchell Rao, Sean D Arredondo, Seema R Lalani, Zhilian Xia, Sung-Hae L Kang, Weimin Bi, Amy M Breman, Janice L Smith, Carlos A Bacino, Arthur L Beaudet, Ankita Patel, Sau Wai Cheung, James R Lupski, Paweł Stankiewicz, Melissa B Ramocki, Chad A Shaw
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science (PLoS) 2013-01-01
Colecção:PLoS Genetics
Acesso em linha:http://europepmc.org/articles/PMC3784560?pdf=render
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