Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population.

Pathogenic variants in 2.73% of the Slovenian population are found in 84 medically actionable genes, with an additional 0.48% of novel likely pathogenic variants.

• Why it matters: Understanding population-specific genetic variation is crucial for developing effective health policies and preventive strategies tailored to the Slovenian population.
• What they did: Exome sequencing of 14,000 Slovenian individuals was used to classify variants according to ACMG criteria, comparing their prevalence to the gnomAD database across 84 genes.
• The result: Approximately one in 31 individuals carries a potentially actionable variant, with significant differences in BRCA1, LDLR, and HFE gene variant prevalence compared to gnomAD, emphasizing the need for population-specific genetic assessments.