About Us

Clinical Genome Resource (ClinGen)

The National Human Genome Research Institute (NHGRI) established the Consortium in 2013 to fill a gap of organized, available information about which genes and genomic variants are relevant to human disease. The Consortium works to identify which genes are associated with disease (through a process known as gene curation) and which variants in those genes are disease-causing (via variant curation). Then, they work to standardize the way researchers document and share information about those variants.

Stanford ClinGen

The primary work of the Stanford ClinGen team focuses on the development of software infrastructure to support the gene-disease curation and variant curation processes that provide the curated information to build ClinGen’s publicly available knowledgebase.

Two such pieces of essential software include: the Variant Curation Interface (VCI), which supports the FDA-recognized ClinGen process, and the Gene Curation Interface (GCI), which supports gene-disease curation following ClinGen’s framework. The VCI and GCI enable curators to associate pertinent evidence with variant interpretations and gene-disease associations, to assess evidence per variant and gene curation protocols, to support expert review of the curated data, and to make their assertions publicly available so that they can be used by anyone seeking to improve patient care through genomic medicine. The VCI is a community curation tool, and so all interested variant curators are encouraged to to use it.