Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genomic data sharing platform
|
| gptkbp:citation |
PMID: 26255988
PMID: 31646598 |
| gptkbp:collaboratesWith |
international research community
|
| gptkbp:connects |
multiple rare disease databases
|
| gptkbp:coordinates |
gptkb:Global_Alliance_for_Genomics_and_Health
|
| gptkbp:enables |
cross-database patient matching
automated matching of patient genetic and phenotypic data |
| gptkbp:focusesOn |
rare Mendelian diseases
|
| gptkbp:hasFeature |
GA4GH Matchmaker API
|
| https://www.w3.org/2000/01/rdf-schema#label |
Matchmaker Exchange
|
| gptkbp:launched |
2013
|
| gptkbp:memberDatabase |
gptkb:DECIPHER
gptkb:GeneMatcher MyGene2 PhenomeCentral UDN (Undiagnosed Diseases Network) seqr |
| gptkbp:purpose |
rare disease gene discovery
|
| gptkbp:supports |
variant interpretation
gene discovery |
| gptkbp:type |
genomic data
phenotypic data |
| gptkbp:website |
https://www.matchmakerexchange.org/
|
| gptkbp:bfsParent |
gptkb:Human_Phenotype_Ontology
|
| gptkbp:bfsLayer |
7
|