title: Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.
authors.affiliation: Department of Biomedical Engineering and The Institute for Computational Medicine, The Johns Hopkins University, Baltimore, Maryland, United States of America.
authors.forename: David L
authors.initials: DL
authors.lastname: Masica
authors.affiliation: Department of Biomedical Engineering and The Institute for Computational Medicine, The Johns Hopkins University, Baltimore, Maryland, United States of America.|Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
authors.forename: Rachel
authors.initials: R
authors.lastname: Karchin
mesh_terms: D019943:Amino Acid Substitution; D019295:Computational Biology; D003198:Computer Simulation; D003550:Cystic Fibrosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D058068:Endophenotypes; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008957:Models, Genetic; D020125:Mutation, Missense; D011973:Receptors, LDL / Q000235:genetics
chemical_list: C505032:CFTR protein, human; C573412:LDLR protein, human; D011973:Receptors, LDL; D019005:Cystic Fibrosis Transmembrane Conductance Regulator