Stephen N. Thibodeau

1. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
   2016/09/22 by Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver +46 · 80 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Computational biology #Computer science #Gene #Genetics #Genomics and Phylogenetic Studies #Genomics and Rare Diseases #Missense mutation #Mutation #Pathogenicity #Virology and Viral Diseases
2. Genomic data in the All of Us Research Program
   2024/02/19 by Manuscript Writing Group, Alexander G. Bick, Ginger Metcalf +93 · 1 voice · 35 citations
   Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genetic Associations and Epidemiology #Genomics and Rare Diseases
3. Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure
   1998/05/01 by Timothy M. Olson, Virginia V. Michels, Stephen N. Thibodeau +2 · 5 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Cardiomyopathy and Myosin Studies #Viral Infections and Immunology Research #Muscle Physiology and Disorders #Missense mutation #Dilated cardiomyopathy #Heart failure #Actin #Mutation #Dystrophin #Cardiomyopathy #Genetics #Biology #Point mutation #Gene #Internal medicine #Cardiology #Medicine