Skip to main content
Fig. 5 | BMC Medical Genetics

Fig. 5

From: Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer

Fig. 5

Model workflow for the identification of novel candidate germline variants associated with cancer. We suggest several filters to identify candidate cancer germline variants. As a first step, information on whether the variant itself or the transcription levels of its associated gene can stratify patients based on survival should be considered. Next steps should include comparing variant frequency in cancer and non-cancer populations, and adjusting for the ancestry of the cancer and non-cancer cohorts. These steps could streamline the identification of candidate germline variants associated with a specific cancer type, and which should be selected for further validation

Back to article page