In order to broaden the concept of variant, we will introduce the concept of ‘Regions’ to CIViC. Regions, and variants derived from them, will be an expansion of the Gene-based variant concept. Regions will be categorized as 8 classes: “Gene”; “Chromosomal SV” (Structural Variant), for variants such as gene fusions, chromosomal deletions, duplications, and rearrangements while supporting additional coordinate types including cytogenetic coordinate representations; “Process” used to define variants that do not admit a coordinate representation, such as microsatellite instability or tumor mutation burden; external source regions (“Virus”, “Retrotransposon”, “Microbial” and “Prion”); and “Pathway”, linked to their constituent genes. These Region entities will be linked to evidence items and assertions in a manner fully analogous to current gene based variants.
In order to broaden the concept of variant, we will introduce the concept of ‘Regions’ to CIViC. Regions, and variants derived from them, will be an expansion of the Gene-based variant concept. Regions will be categorized as 8 classes: “Gene”; “Chromosomal SV” (Structural Variant), for variants such as gene fusions, chromosomal deletions, duplications, and rearrangements while supporting additional coordinate types including cytogenetic coordinate representations; “Process” used to define variants that do not admit a coordinate representation, such as microsatellite instability or tumor mutation burden; external source regions (“Virus”, “Retrotransposon”, “Microbial” and “Prion”); and “Pathway”, linked to their constituent genes. These Region entities will be linked to evidence items and assertions in a manner fully analogous to current gene based variants.