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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
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Article
Online Zugang: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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