June 29, 2015
A detailed review of ClinGen is presented in New England Journal of Medicine, which was launched in 2013 and supported by the National Institutes of Health, to be an “authoritative central resource that defines the clinical relevance of genomic variants for use in precision medicine and research.” The review addresses the goals of the Clinical Genome Resource (ClinGen) and discusses how the ClinVar database – the cornerstone of ClinGen – operates. The article describes ClinVar as the public portal for the deposition and retrieval of variants and the interpretation of their clinical significance. It currently contains 172,055 variant submissions across 22,864 genes out of which more than 118,000 of the unique variants in ClinVar have clinical interpretations. The authors maintain that ClinVar ensures that all variants are recorded according to standardised nomenclature and works with members of the sequence and structural variant communities to develop new standards for interpreting genetic variants.
Additionally, the authors also illustrate the work of the ClinGen Gene Curation Working Group towards developing standards for assigning the level of evidence supporting a gene–disease relationship and a new database called ClinGenKB, which allows for a flexible working environment for curation. Finally, the authors highlight the activities of ClinGen Actionability Working Group and GenomeConnect.