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

@article{Ioannidis2016REVELAE,
  title={REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.},
  author={N. Ioannidis and J. Rothstein and V. Pejaver and S. Middha and S. McDonnell and S. Baheti and Anthony M. Musolf and Qing Li and E. Holzinger and D. Karyadi and L. Cannon-Albright and Craig C Teerlink and J. Stanford and W. Isaacs and Jianfeng Xu and K. Cooney and E. Lange and J. Schleutker and J. Carpten and I. Powell and O. Cussenot and G. Cancel-Tassin and G. Giles and R. MacInnis and C. Maier and C. Hsieh and F. Wiklund and W. Catalona and W. Foulkes and D. Mandal and R. Eeles and Z. Kote-Jarai and C. Bustamante and D. Schaid and T. Hastie and E. Ostrander and J. Bailey-Wilson and P. Radivojac and S. Thibodeau and A. Whittemore and W. Sieh},
  journal={American journal of human genetics},
  year={2016},
  volume={99 4},
  pages={
          877-885
        }
}
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 disease variants from exome sequencing studies. We developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of… Expand

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