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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Detalles Bibliográficos
Autores principales: Campbell, Ian M., Rao, Mitchell, Arredondo, Sean D., Lalani, Seema R., Xia, Zhilian, Kang, Sung-Hae L., Bi, Weimin, Breman, Amy M., Smith, Janice L., Bacino, Carlos A., Beaudet, Arthur L., Patel, Ankita, Cheung, Sau Wai, Lupski, James R., Stankiewicz, Paweł, Ramocki, Melissa B., Shaw, Chad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784560/
https://www.ncbi.nlm.nih.gov/pubmed/24086149
http://dx.doi.org/10.1371/journal.pgen.1003797

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784560/
https://www.ncbi.nlm.nih.gov/pubmed/24086149
http://dx.doi.org/10.1371/journal.pgen.1003797

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