Knowledgebase Updates

The Emedgene knowledge base for gene-disease connections relies on a curated collection of data from multiple sources, including OMIM, Orphanet, HPO, and Emedgene publications.

These sources are regularly updated, typically on a monthly basis, to maintain the database's accuracy and timeliness. OMIM serves as the primary source, providing information on genes associated with diseases and their corresponding phenotypes. However, the use of diverse ontologies for phenotype designation within OMIM, including HPO, UMLS, and SNOMED, can lead to potential data gaps. To address this, Emedgene incorporates both OMIM phenotypes and those mapped by the HPO ontology team https://hpo.jax.org/, ensuring a more comprehensive representation of phenotype information.

Beyond OMIM, Emedgene leverages gene-disease relationships and phenotype annotations from Orphanet. https://www.orpha.net/.

Furthermore, Emedgene maintains an internal database by continuously monitoring scientific literature. This allows for the identification and incorporation of new peer-reviewed articles describing gene-disease associations, with a particular focus on rare diseases. A rigorous review process, including an assessment of the validation level employed, ensures the inclusion of high-quality research findings as soon as they are published. This proactive approach guarantees that the knowledge base remains current and reflects the latest advancements in the field of genomics.