Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants

PLoS Comput Biol. 2016 May 12;12(5):e1004725. doi: 10.1371/journal.pcbi.1004725. eCollection 2016 May.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Amino Acid Substitution
  • Computational Biology
  • Computer Simulation
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Endophenotypes*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Models, Genetic*
  • Mutation, Missense*
  • Receptors, LDL / genetics

Substances

  • CFTR protein, human
  • LDLR protein, human
  • Receptors, LDL
  • Cystic Fibrosis Transmembrane Conductance Regulator