REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the pathogenicity of rare coding variants are needed to facilitate the discovery of d...

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Publicado en:Am J Hum Genet
Main Authors: Ioannidis, Nilah M., Rothstein, Joseph H., Pejaver, Vikas, Middha, Sumit, McDonnell, Shannon K., Baheti, Saurabh, Musolf, Anthony, Li, Qing, Holzinger, Emily, Karyadi, Danielle, Cannon-Albright, Lisa A., Teerlink, Craig C., Stanford, Janet L., Isaacs, William B., Xu, Jianfeng, Cooney, Kathleen A., Lange, Ethan M., Schleutker, Johanna, Carpten, John D., Powell, Isaac J., Cussenot, Olivier, Cancel-Tassin, Geraldine, Giles, Graham G., MacInnis, Robert J., Maier, Christiane, Hsieh, Chih-Lin, Wiklund, Fredrik, Catalona, William J., Foulkes, William D., Mandal, Diptasri, Eeles, Rosalind A., Kote-Jarai, Zsofia, Bustamante, Carlos D., Schaid, Daniel J., Hastie, Trevor, Ostrander, Elaine A., Bailey-Wilson, Joan E., Radivojac, Predrag, Thibodeau, Stephen N., Whittemore, Alice S., Sieh, Weiva
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065685/
https://ncbi.nlm.nih.gov/pubmed/27666373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.08.016
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