Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, ...
The precise prevalence of pathogenic gene variants in high or moderate penetrance genes associated with hereditary cancer in Indonesia remains undetermined. Furthermore, the criteria for prioritizing ...
Germline pathogenic variants in cancer predisposition genes and overall survival of women with breast cancer. Novel associations between PGV genes and selected cancers. Shown are the odds ratio ...