Data Sources

About

The Monarch Initiative is an international consortium that leads key global standards and semantic data integration technologies. Monarch resources and integrated data are foundational to many downstream applications. We collaborate with stakeholders to continuously improve the platform, which is composed of multiple open-source, open-access components. Our mission is to enhance data utility, accessibility, and transparency to improve rare disease diagnosis and treatment.

Role in SEED-ALS

SEED-ALS uses the Monarch Initiative API to power the ALS Disease Overview page. It provides the scientific backbone of the portal: disease descriptions, associated phenotypes, causal and correlated genes, gene–phenotype links, experimental models, and the disease classification hierarchy.

Data Provided

• Disease entity information and synonyms
• Phenotype associations (signs and symptoms)
• Causal and correlated gene associations
• Gene–phenotype direct links
• Experimental organism disease models
• Disease classification hierarchy (parent conditions and subtypes)

About

The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of personally identifiable genetic, phenotypic, and clinical data generated for the purposes of biomedical research projects or in the context of research-focused healthcare systems.

Role in SEED-ALS

SEED-ALS uses the EGA Metadata API to surface public study and dataset metadata related to ALS research. The portal allows users to discover available studies, browse metadata, and navigate to the EGA portal to formally request controlled access to the data.

Data Provided

• Study-level metadata (title, description, publications)
• Dataset metadata (type, technology, sample size)
• Data access information and policies
• Direct links to official EGA portal for access requests