Frontiers in genetics
Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population
By Kotnik U, Lovrecic L and Peterlin B.
Abstract
Introduction
The prevalence of pathogenic variants in disease-related genes is population-specific and is of vital importance for the development of national health policies. 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.
Materials and methods
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.