article Open AccessTop 1% cited
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
The American Journal of Human Genetics · 2016 · Vol. 99(4) · pp. 877–885
Nilah M. Ioannidis(Stanford University)Joseph H. Rothstein(Icahn School of Medicine at Mount Sinai)Vikas Pejaver(Indiana University Bloomington)Sumit Middha(Memorial Sloan Kettering Cancer Center)Shannon K. McDonnell(Mayo Clinic in Florida)Saurabh Baheti(Mayo Clinic in Florida)Anthony M. Musolf(National Human Genome Research Institute)Qing Li(National Human Genome Research Institute)Emily Holzinger(National Human Genome Research Institute)Danielle M. Karyadi(National Human Genome Research Institute)Lisa Cannon‐Albright(University of Utah)Craig C. Teerlink(University of Utah)Janet L. Stanford(Fred Hutch Cancer Center)William B. Isaacs(Johns Hopkins University)Jianfeng Xu(NorthShore University HealthSystem)Kathleen A. Cooney(University of Utah)Ethan M. Lange(University of North Carolina at Chapel Hill)Johanna Schleutker(University of Turku)John D. Carpten(Translational Genomics Research Institute)Isaac J. Powell(Wayne State University)Olivier CussenotGéraldine Cancel‐TassinGraham G. Giles(Cancer Council Victoria)Robert J. MacInnis(University of Melbourne)Christiane Maier(University Hospital Ulm)Chih‐Lin Hsieh(University of Southern California)Fredrik Wiklund(Karolinska Institutet)William J. Catàlona(Northwestern University)William D. Foulkes(Montreal General Hospital)Diptasri Mandal(Louisiana State University Health Sciences Center New Orleans)Rosalind A. Eeles(Institute of Cancer Research)Zsofia Kote‐Jarai(Institute of Cancer Research)Carlos D. Bustamante(Stanford University)Daniel J. Schaid(Mayo Clinic in Florida)Trevor Hastie(Stanford University)Elaine A. Ostrander(Cancer Genetics (United States))Joan E. Bailey‐Wilson(National Human Genome Research Institute)Predrag Radivojac(Indiana University Bloomington)Stephen N. Thibodeau(WinnMed)Alice S. Whittemore(Stanford University)Weiva Sieh✉(Stanford University)
Genomics and Rare DiseasesVirology and Viral DiseasesGenomics and Phylogenetic StudiesMissense mutationPathogenicityGeneticsComputational biologyBiologyComputer scienceMutationGene
MeSH terms
DiseaseDNA Mutational AnalysisGene FrequencyHumansROC CurveSoftwareArea Under CurveMutation, MissenseExome
Funding
- Emory University
Citations
2,867
FWCI
88.56
field-weighted impact
References
58
Percentile
100%
vs. same field & year
Citations per year
References
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Nature Protocols · 2009 · 6,687 citations
Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
The American Journal of Human Genetics · 2011 · 774 citations
pROC: an open-source package for R and S+ to analyze and compare ROC curves
BMC Bioinformatics · 2011 · 13,604 citations
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
PLoS Computational Biology · 2010 · 1,854 citations
A method and server for predicting damaging missense mutations
Nature Methods · 2010 · 13,461 citations
Exome sequencing as a tool for Mendelian disease gene discovery
Nature Reviews Genetics · 2011 · 1,675 citations
PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations
PLoS Computational Biology · 2014 · 864 citations
MutationTaster evaluates disease-causing potential of sequence alterations
Nature Methods · 2010 · 3,042 citations
Citation Network
How this paper connects to the literature. Drag to explore, click any node to open that paper.