PhenomeCentral

Other names: phenomecentral

Repository for clinicians and scientists working in the rare disorder community. It enables secure sharing of case records by clinicians and rare disease scientists and helps the user to find additional cases of the same unnamed disorder. The repository identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users.

Webpage:
https://phenomecentral.org

Publications:

Tags:

genotype and phenotype rare diseases phenomics genetic variation data integration and warehousing

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