Clinical Genome Resource (ClinGen)

ClinGen defines the clinical relevance of genes and variants for medical and research use, developing standards for data sharing and curation.

Key Features:

• Gene-Disease Relationship Curation: Expert panels curate the validity of monogenic disease relationships using ClinGen standards and infrastructure.
• Variant Pathogenicity Classification: Expert panels classify the pathogenicity of genetic variation, with results submitted to ClinVar.
• Dosage Sensitivity Assessment: Genes are evaluated for dosage sensitivity to support interpretation of copy-number variation.
• Actionability Curation: Gene-disease interventions are assessed for actionability to guide disclosure of genomic findings to patients.
• Expanding Domains: New efforts are underway in somatic cancer, complex disease, and pharmacogenomics.

Scientific Applications:

• Genetic Testing Panel Development: ClinGen's knowledge supports building evidence-based genetic testing panels.
• Copy-Number Variation Interpretation: Dosage sensitivity data enables interpretation of copy-number variation.
• Variant Classification Discrepancy Resolution: Curated classifications help resolve discrepancies in variant classification.
• Patient Genomic Findings Disclosure: Actionability assessments guide disclosure of genomic findings to patients.
• Algorithm Assessment: The resource enables assessment of new predictive algorithms.

Methodology:

Expert panels with over 2500 active members from 67 countries conduct curation using ClinGen standards, infrastructure, and curation interfaces.