Dataset Information

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

ABSTRACT: The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient phenotypes may not match known diseases, candidate variants may be in genes that have not been characterized, model organisms may not recapitulate human or veterinary diseases, filling evolutionary gaps is difficult, and many resources must be queried to find potentially significant genotype-phenotype associations. Non-human organisms have proven instrumental in revealing biological mechanisms. Advanced informatics tools can identify phenotypically relevant disease models in research and diagnostic contexts. Large-scale integration of model organism and clinical research data can provide a breadth of knowledge not available from individual sources and can provide contextualization of data back to these sources. The Monarch Initiative (monarchinitiative.org) is a collaborative, open science effort that aims to semantically integrate genotype-phenotype data from many species and sources in order to support precision medicine, disease modeling, and mechanistic exploration. Our integrated knowledge graph, analytic tools, and web services enable diverse users to explore relationships between phenotypes and genotypes across species.

SUBMITTER: Mungall CJ

PROVIDER: S-EPMC5210586 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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

Mungall Christopher J CJ McMurry Julie A JA Köhler Sebastian S Balhoff James P JP Borromeo Charles C Brush Matthew M Carbon Seth S Conlin Tom T Dunn Nathan N Engelstad Mark M Foster Erin E Gourdine J P JP Jacobsen Julius O B JO Keith Dan D Laraway Bryan B Lewis Suzanna E SE NguyenXuan Jeremy J Shefchek Kent K Vasilevsky Nicole N Yuan Zhou Z Washington Nicole N Hochheiser Harry H Groza Tudor T Smedley Damian D Robinson Peter N PN Haendel Melissa A MA

Nucleic acids research 20161129 D1

The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient phenotypes may not match known diseases, candidate variants may be in genes that have not been characterized, model organisms may not recapitulate human or veterinary diseases, filling evolutionary gaps is difficult, and many resources must be queried to find potentially significant genotype-phenotype associations. ...[more]

PMID: 27899636

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Dataset Information

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

Publications

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

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