A Comprehensive Evaluation of Disease Phenotype Networks for Gene Prioritization.

ABSTRACT: Identification of disease-causing genes is a fundamental challenge for human health studies. The phenotypic similarity among diseases may reflect the interactions at the molecular level, and phenotype comparison can be used to predict disease candidate genes. Online Mendelian Inheritance in Man (OMIM) is a database of human genetic diseases and related genes that has become an authoritative source of disease phenotypes. However, disease phenotypes have been described by free text; thus, standardization of phenotypic descriptions is needed before diseases can be compared. Several disease phenotype networks have been established in OMIM using different standardization methods. Two of these networks are important for phenotypic similarity analysis: the first and most commonly used network (mi

SUBMITTER: Li J 

PROVIDER: S-EPMC4944959 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature