About Us - ClinGen | Clinical Genome Resource

ClinGen - Clinical Genome Resource

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

Key Goals

Several key goals support our overall mission of building a genomic knowledge base to improve patient care:

Aggregate - Develop infrastructure and standards, and execute the task of aggregating and sharing relevant data about genes, genetic conditions, and the genetic variants that cause them.
Curate - Produce a public resource of clinically relevant genes and variants through the ongoing evolution of data standards, evidence frameworks and biocuration tools that support a worldwide expert curation ecosystem involving diverse participants.
Disseminate - Maximize utility of the curated genome through broad dissemination of tools, standards, and expert assertions into both clinical and research settings. ClinGen will continue to use FAIR principles and stakeholder engagement to ensure widespread use of resources, tools and curation results.
Evaluate and Improve - Define, develop and implement methods and metrics to enable evaluation of each of the ClinGen resources, tools and curation results. Using principles of learning systems ClinGen will use these results for continuous improvement of ClinGen’s resources.