The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.

ABSTRACT: In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven't been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic di

SUBMITTER: Shefchek KA 

PROVIDER: S-EPMC7056945 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature