| Naslov: | Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population |
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| Avtorji: | ID Maver, Aleš (Avtor)
ID Juvan, Peter (Avtor)
ID Kotnik, Urška (Avtor)
ID Lovrečić, Luca (Avtor)
ID Bergant, Gaber (Avtor)
ID Peterlin, Borut (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (1,55 MB)
MD5: F701153BC40CAD8648D65EAA48B22AAC
 URL - Izvorni URL, za dostop obiščite https://www.nature.com/articles/s41598-025-24991-9
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | 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. |
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| Ključne besede: | population genomic variation, whole genome sequencing, genome browser, Slovenian genome database |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2025 |
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| Št. strani: | str. 1-11 |
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| Številčenje: | Vol. 15, article no. ǂ41118 |
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| PID: | 20.500.12556/DiRROS-24844  |
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| UDK: | 61:575 |
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| ISSN pri članku: | 2045-2322 |
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| DOI: | 10.1038/s41598-025-24991-9 |
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| COBISS.SI-ID: | 258328323 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 24. 11. 2025;
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| Datum objave v DiRROS: | 22.12.2025 |
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| Število ogledov: | 5 |
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| Število prenosov: | 2 |
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| Metapodatki: |    |
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