is a Data Source.
The Clinical Genome Resource (ClinGen) is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. ClinGen brings together clinical and research experts to develop standard approaches for interpreting genomic variants, curate evidence for gene-disease relationships, and share this knowledge through freely accessible databases.
genomics, biomedical, clinical, health
Unknown
Unknown
Unknown
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| clingen.gene-disease | Gene-Disease Validity Curations | gene-validity | DataProduct | csv | ClinGen Gene-Disease Validity curatio... |
| clingen.dosage | Dosage Sensitivity Curations | gene-dosage | DataProduct | tsv | ClinGen Dosage Sensitivity curations ... |
| clingen.actionability | Clinical Actionability Curations | actionability | DataProduct | tsv | ClinGen Clinical Actionability evalua... |
| clingen.variant | Variant Pathogenicity Curations | all | DataProduct | csv | ClinGen Variant Pathogenicity curatio... |
| clingen.evrepo.api | ClinGen Evidence Repository API | api | ProgrammingInterface | ❔ | REST API providing access to ClinGen'... |
| clingen.web.interface | ClinGen Search Interface | search.clinicalgenome.org | GraphicalInterface | ❔ | Web-based interface for accessing Cli... |
| clingen.variant.frameworks | Variant Interpretation Frameworks | sequence-variant-interpretation | ProcessProduct | ❔ | Framework for standardized interpreta... |
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| ubkg.neo4j | UBKG Neo4j Docker Distribution | ubkg-downloads.xconsortia.org | GraphProduct | ❔ | Turnkey neo4j distributions that depl... |
| ubkg.csv | UBKG Ontology CSV Files | ubkg-downloads.xconsortia.org | GraphProduct | csv | Ontology CSV files that can be import... |