Fig. 2

Overview of the Gene and Variant knowledge models and the structure of Variant Groups. The Gene and Variant knowledge models shown above display their associated features (including the Variant Groups feature of Variants) and their origins. Features that are linked to their notes with dotted lines are automatically generated, whenever possible. a Gene data (blue box) consists of curated features (Gene Name, Summary, Sources) and auto-generated links to external entities (MyGene.info and DGIdb). Each Gene can be associated with any number of Variants (dark orange box) and Variants can be grouped (light orange box) based on any unifying feature type (e.g., fusions, activating mutations). b Variant Group features are outlined by the light orange box. These features include a Summary with Sources and associated Variants. c Variant data (dark orange box) includes the Gene Name, Aliases, HGVS Expressions, Variant Evidence Score, Allele Registry ID, Summary Sources, Variant Types, ClinVar IDs, MyVariant.info, and Coordinates. Variants can be associated with CIViC Assertions (green) and Evidence Items (yellow)