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
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infores:clingen
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| clingen.gene-disease | Gene-Disease Validity Curations | gene-validity | Product | csv | ClinGen Gene-Disease Validity curatio... |
| clingen.dosage | Dosage Sensitivity Curations | gene-dosage | Product | tsv | ClinGen Dosage Sensitivity curations ... |
| clingen.actionability | Clinical Actionability Curations | actionability | Product | tsv | ClinGen Clinical Actionability evalua... |
| clingen.variant | Variant Pathogenicity Curations | all | Product | 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... |
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | DisGeNET data, including gene to dise... |
| kg-monarch.graph | KGX Distribution of KG-Monarch | monarch-kg.tar.gz (220.2 MB) | GraphProduct | kgx | KGX Distribution of KG-Monarch |
| kg-monarch.graph.jsonl | KGX JSON-L Distribution of KG-Monarch | monarch-kg.jsonl.tar.gz (301.0 MB) | GraphProduct | kgx-jsonl | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.rdf | RDF Distribution of KG-Monarch | monarch-kg.nt.gz (838.5 MB) | GraphProduct | rdfxml | RDF Distribution of KG-Monarch |
| kg-monarch.graph.neo4j | Neo4j Dump of KG-Monarch | monarch-kg.neo4j.dump (1.3 GB) | GraphProduct | ❔ | Neo4j Dump of KG-Monarch |
| kg-monarch.graph.duckdb | DuckDB database of KG-Monarch | monarch-kg.duckdb (6.4 GB) | GraphProduct | ❔ | DuckDB database of KG-Monarch |
| kg-monarch.graph.jsonl.edges | KGX JSON-L Distribution of KG-Monarch Edges | monarch-kg_edges.jsonl (14.2 GB) | GraphProduct | kgx-jsonl | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.jsonl.nodes | KGX JSON-L Distribution of KG-Monarch Nodes | monarch-kg_nodes.jsonl (1.1 GB) | GraphProduct | kgx-jsonl | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.neo4j.edges | Neo4j Dump of KG-Monarch Edges | monarch-kg_edges.neo4j.csv (4.1 GB) | GraphProduct | neo4j | Neo4j Dump of KG-Monarch Edges |
| kg-monarch.graph.neo4j.nodes | Neo4j Dump of KG-Monarch Nodes | monarch-kg_nodes.neo4j.csv (333.4 MB) | GraphProduct | neo4j | Neo4j Dump of KG-Monarch Nodes |
The Clinical Genome Resource (ClinGen) is a National Institutes of Health (NIH)-funded resource dedicated to building a central database that defines the clinical relevance of genes and variants for use in precision medicine and research. Founded in 2013, ClinGen is a collaborative effort involving more than 2,700 contributors from over 72 countries who work to curate and standardize information about genomic variants and their relationship to human health.
ClinGen serves as a critical bridge between genomic research and clinical application, enabling better interpretation of genetic testing results and improving patient care through enhanced variant classification. The resource addresses the challenge of interpreting the vast amount of genomic data being generated by modern sequencing technologies.
ClinGen’s primary goal is to improve patient care by ensuring that clinicians, researchers, and patients have access to reliable genomic information. The resource achieves this through several key curation activities:
Gene-Disease Validity: Evaluating the strength of evidence supporting relationships between genes and diseases. Gene Curation Expert Panels (GCEPs) classify evidence for gene-disease relationships as Definitive, Strong, Moderate, Limited, No Reported Evidence, or Disputed.
Variant Pathogenicity: Assessing whether specific genetic variants cause disease. Variant Curation Expert Panels (VCEPs) apply the ACMG/AMP guidelines to classify variants as Pathogenic, Likely Pathogenic, Uncertain Significance, Likely Benign, or Benign.
Dosage Sensitivity: Determining if changes in gene copy number (deletions or duplications) result in disease. The Dosage Sensitivity Working Group evaluates whether gains or losses of specific genomic regions lead to clinical phenotypes.
Clinical Actionability: Evaluating medical interventions available for individuals with genetic conditions. The Actionability Working Group assesses what clinical interventions are available for patients with specific genetic disorders and scores their actionability.
Somatic Cancer Variant Interpretation: Curating the clinical significance of genomic alterations in cancer. The Somatic Cancer Working Group applies specialized frameworks to classify cancer-related variants.
ClinGen coordinates numerous Expert Panels composed of international experts who evaluate evidence and generate consensus interpretations of genomic variants. As of 2025, there are over 60 active Variant Curation Expert Panels (VCEPs) and Gene Curation Expert Panels (GCEPs) focusing on specific diseases or genes including:
These panels follow standardized frameworks to ensure consistency across interpretations and periodically review their classifications as new evidence emerges.
All curated content from ClinGen is freely available to the scientific and medical communities under a CC0 1.0 Universal license. The data can be accessed through:
ClinGen also partners with patient registries and data sharing platforms like GenomeConnect to enhance the collection of phenotypic information associated with genetic variants.
ClinGen resources are widely used in clinical genomics, serving as an authoritative source for variant interpretation in genetic testing. In 2018, the FDA recognized ClinGen as the first FDA-designated public genetic variant database, allowing test developers to use ClinGen’s variant classifications as clinical validity support for genetic tests without the need for additional FDA review.
The resource has significantly improved standardization in variant interpretation across laboratories through:
ClinGen has also established formal partnerships with other genomic resources including ClinVar, CPIC (Clinical Pharmacogenetics Implementation Consortium), PharmGKB, and international genomic medicine initiatives to enhance the global standardization of genomic information.
ClinGen supports community involvement through:
Through these efforts, ClinGen is driving the advancement of precision medicine by creating a standardized, centralized resource for clinically relevant genomic knowledge.
Created: June 04, 2025 | Last modified: January 23, 2026