These include associations between well-described, clinically relevant gene-disease pairs—such as BRCA1 and LDLR deletions increasing the risk for early-onset ovarian cancer (Additional file 1: Note S7) and ischemic heart disease (Additional file 1: Note S8), respectively—but for which the role of CNVs in a large population cohort had not been previously investigated. This evidence concerns the gene BRCA1 and ovarian carcinoma.