Fig. 4: Timeline depicting recall by genotype studies carried out at EstBB.
From: The Estonian Biobank’s journey from biobanking to personalized medicine
Above the timeline, return of results directly from the biobank, below the timeline, return of results provided in a clinical setting. The recall studies are based on CNVs—copy number variants, ACMG—Americal College of Medical Genetics list of genes where incidental findings should be reported, PRS—polygenic risk scores for CVD (cardiovascular disease) or breast cancer, PGx—pharmacogenetics—novel predicted LoF (loss-of-function) or nonsyn (non-synonymous) variants in CYP2D6 or CYP2C19. N indicate number of individuals with high risk PRS or variant carriers that participated in the study.
