The Monarch Initiative: Linking Diseases to Model Organism Resources

Grant Number: R24OD011883

Research Emphasis/Objectives

The Monarch Initiative is the biomedical research community’s most comprehensive cross-species phenotype information resource, delivering powerful computational phenotypic tools. The Monarch Initiative combines structured information about genetics and descriptions of resulting malformations, clinical signs, and symptoms from multiple organisms to increase the utility of animal models and improve our understanding of human diseases.

Services Provided

Since its inception in 2012, Monarch has been a leader in all aspects of phenotype computation. These include creating and extending multiple ontologies; aggregating substantial bodies of annotations, including over 78,000 disease–gene associations and 1.4 million genotype-phenotype associations from more than 25 primary resources; implementing novel algorithms for phenotypic analysis and applying those algorithms to previously unsolved rare diseases; developing an open website and computational resources to provide these data to the community; creating visualizations that facilitate the interpretation of the results of phenotypic analyses; and contributing to community efforts aimed at capturing the provenance and research resource information needed to validate phenotype associations.

Contact Information

Melissa A. Haendel, Ph.D.
University of Colorado Denver
Anschutz Medical Campus
Aurora, CO 80045-2570
Phone: 503-407-5970
[email protected]
monarchinitiative.org

Additional Contact

Brandon White
[email protected]