Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.

ABSTRACT: 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

SUBMITTER: Maver A 

PROVIDER: S-EPMC12635199 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature