20.500.12556/DiRROS-24844 Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population The genomic data of Central European populations is underrepresented in the publicly available databases. We present the comprehensive genomic variation of the Slovenian population, based on the genomic sequencing of 9425 non-related individuals, i.e. more than 0.44% of the Slovenian population. Over 30 million unique single nucleotide and small indel (30.8 million), copy number (217.6 thousand), and mitochondrial variants (3.3 thousand) were uncovered and annotated by analysing the whole genome of 619 individuals and the whole exome of 8806 individuals. This population variation, including 3,9 million novel variants, is presented in a publicly available genome variant browser, the SloGenVar (https://slogenvar.si). We used this newly developed resource to reveal the population frequency of pathogenic variants in the genes associated with recessive conditions. The Slovenian genome database and browser offer the largest and the most comprehensive publicly available Central European population genomic variant resource, providing an important asset for genomic studies and as a control variant database for variant interpretation in the region and beyond. population genomic variation whole genome sequencing genome browser Slovenian genome database true false true Angleški jezik Ni določen Neznano 2025-12-22 12:35:27 2025-12-22 12:35:27 2025-12-23 03:59:15 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 24. 11. 2025; str. 1-11 article no. ǂ41118 Vol. 15 2025 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 61:575 2045-2322 10.1038/s41598-025-24991-9 258328323 RAZ_Maver_Ales_2025.pdf RAZ_Maver_Ales_2025.pdf 1 F701153BC40CAD8648D65EAA48B22AAC 4055c7604eada2f1031cd7b69af20caf1fded5eb2f70a53ced3003805bf12ffb 7eb6d753-df2a-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=37164 https://www.nature.com/articles/s41598-025-24991-9 0 943f2fee-df2a-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=37165 Univerzitetni klinični center Ljubljana 0 0 0