As co-leaders of the Variant Interpretation for Cancer Consortium (VICC), we have used our experience with CIViC to develop guidelines for representing and sharing variant interpretations. These additions to CIViC will be integrated into the VICC aggregated variant interpretation knowledgebase (search.cancervariants.org), a key research product of the VICC. This resource pools and normalizes variant interpretations from CIViC and 6 other established knowledgebases (OncoKB, JaxCKB, CGI, PMKB, MolecularMatch, BRCA Exchange) into a single queryable datastore17,35–37. In addition to this direct reuse of the content of CIViC, our experience with the expanded data model described in this proposal will allow us to disseminate best practices for dealing with these complex data in CIViC to the VICC, and by extension the GA4GH. This is a critical need of the variant interpretation community (Letter: Drs. Birney and Goodhand). To achieve this we will formalize our computational model for representing interpretations and use it to build standards from which other variant interpretation knowledgebases (including the expansive multitude of non-VICC knowledgebases) may also benefit.
As co-leaders of the Variant Interpretation for Cancer Consortium (VICC), we have used our experience with CIViC to develop guidelines for representing and sharing variant interpretations. These additions to CIViC will be integrated into the VICC aggregated variant interpretation knowledgebase (search.cancervariants.org), a key research product of the VICC. This resource pools and normalizes variant interpretations from CIViC and 6 other established knowledgebases (OncoKB, JaxCKB, CGI, PMKB, MolecularMatch, BRCA Exchange) into a single queryable datastore17,35–37. In addition to this direct reuse of the content of CIViC, our experience with the expanded data model described in this proposal will allow us to disseminate best practices for dealing with these complex data in CIViC to the VICC, and by extension the GA4GH. This is a critical need of the variant interpretation community (Letter: Drs. Birney and Goodhand). To achieve this we will formalize our computational model for representing interpretations and use it to build standards from which other variant interpretation knowledgebases (including the expansive multitude of non-VICC knowledgebases) may also benefit.