Concepedia

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

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver, Sumit Middha, Shannon K. McDonnell, Saurabh Baheti, Anthony M. Musolf, Qing Li, Emily Holzinger, Danielle M. Karyadi,

The American Journal of Human Genetics · 2016 · 3K citations · 50 references

Open access

Concepts

Life SciencesBioinformaticsGeneticsGenomicsHuman GeneticsMedical GeneticsRare Disease GeneticsRare Disease GenomicsRare Variant AnalysisVariant AnalysisVariant ClassificationVariant DetectionComputational Pathogenicity PredictionMissense MutationsMissense Variant AnalysisRare Genetic VariantsRare Variant Risk Prediction

References

50

Random Forests

Leo Breiman · Machine Learning · 2001 · 126.2K citations · Full text

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comparing the Areas under Two or More Correlated Receiver Operating Characteristic Curves: A Nonparametric Approach

Elizabeth R. DeLong, David M. DeLong, Daniel L. Clarke‐Pearson · Biometrics · 1988 · 22.3K citations

Natural Sciences, Biostatistics, Diagnostic Assessment +16

Classification and Regression by randomForest

Andy Liaw, Matthew C. Wiener · 2007 · 18.4K citations

Computing, Computer Science, Data Mining +16

pROC: an open-source package for R and S+ to analyze and compare ROC curves

Xavier Robin, Natacha Turck, Alexandre Hainard et al. · BMC Bioinformatics · 2011 · 14K citations · Full text

Computing, Bioinformatics, Biostatistics +9