What are the differences between research somatic variants and clinical variants?


As part of NCI's Genomic Data Commons’ (GDC) harmonization process, potential germline mutations are filtered from the variants identified by DNA sequencing of the model and normal tissues. These highly-filtered lists of somatic mutations without the germline variants are called “masked somatic mutations”, and they are available to users as open-access “masked somatic MAF” files for each model. Once cases are released at the GDC, the available masked somatic MAF model data are shown as “Research Somatic Variants” on the HCMI Searchable Catalog. Catalog users may search the available models for gene mutations of interest.

Clinical Variants contain the cancer type-specific prognostic or predictive variants identified by clinical sequencing and/or histopathological staining as reported in the Case Report Forms. The cancer type-specific clinical variants represented in the HCMI Case Report Forms incorporates input from teams of international clinical collaborators.

Associated Program: 
Human Cancer Models Initiative
Last updated: April 21, 2021