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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Pubblicato in:Am J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
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Article
Accesso online: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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