Table 1_Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population.xlsx

It is especially important with medically actionable diseases, where early interventions and preventive surveillance are available and can enable effective preventive measures or timely treatment.</p>Materials and Methods<p>We have examined the burden of pathogenic variants in 84 genes associated with medically actionable disease in exome sequencing data of 14.000 Slovenian individuals, representing 0.7% of the whole Slovenian population.

The variants were classified according to the ACMG criteria, and the prevalence of pathogenic variants in each gene was compared to the burden of pathogenic variants in the gnomAD database.</p>Results<p>The prevalence of pathogenic variants in 84 medically actionable genes in the Slovenian population is 2.73%. Furthermore, we identified an additional 0.48% of novel candidate likely pathogenic variants. Together, these variants accounted for 3.21% of all detected potentially medically actionable variants.