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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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2016
Fag:
Online adgang: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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