PhenomeCentral

About the resource

Type of resource: Matchmaking tool
License/availability: Controlled-access data; free to use
Website: Click here to view website
User documentation:
Relevant publication:

Description

PhenomeCentral is a repository for secure data sharing targeted to the rare disorder community, powered by PhenoTips.  Because the discovery of disease-causing variants typically requires confirmation of the mutation or gene in multiple unrelated individuals, a large number of genetic disorders remain unsolved due to difficulty of identifying second families.  It is critical to establish effective and secure data-sharing techniques that allow clinicians and scientists to identify additional families via phenotype and genotype searches. Each patient record within PhenomeCentral consists of a thorough phenotypic description capturing observed abnormalities as well as relevant manifestations that were not seen in the patient, expressed using Human Phenotype Ontology terms. Furthermore, each record can be labeled by the creator as: private ‒ hidden from everyone except the contributor; public ‒ viewable and searchable by all registered users; or matchable ‒ the record cannot be directly viewed or searched, but is reachable via an automated phenotype matching system which informs contributors of the existence of phenotypic profiles similar to their cases. The phenotypic features shared among these records are presented without revealing additional patient information or the contributors. The system thus enables direct communication among contributors for any subsequent data sharing.