Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population
Aleš Maver, Peter Juvan, Urška Kotnik et al.
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Abstract
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The authors present a comprehensive catalog of genomic variation in the Slovenian population derived from analysis of 9,425 unrelated individuals (619 whole genomes and 8,806 whole exomes). The work reports over 30 million unique single-nucleotide and small indel variants, additional copy-number and mitochondrial variants, and identifies several million variants not previously reported in large public databases. The dataset is made available through a public variant browser (SloGenVar) to support variant interpretation and population-genetics studies for Slovenia and the Central European region.
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