20.500.12556/DiRROS-29989 Genomic landscape of susceptibility to severe Covid-19 in the Slovenian population Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as possibly contributing to the severe infection phenotype(s); however, the findings are complex and appear to be population- dependent. We aimed to determine the contribution of human rare genetic variants associated with a severe outcome of SARS-CoV-2 infections and their burden in the Slovenian population. A panel of 517 genes associated with severe SARS-CoV-2 infection were obtained by combining an extensive review of the literature, target genes identified by the COVID-19 Host Genetic Initiative, and the curated Research COVID-19 associated genes from PanelApp, England Genomics. Whole genome sequencing was performed using PCR-free WGS on DNA from 60 patients hospitalized due to severe COVID-19 disease, and the identified rare genomic variants were analyzed and classified according to the ACMG criteria. Background prevalence in the general Slovenian population was determined by comparison with sequencing data from 8025 individuals included in the Slovenian genomic database (SGDB). Results show that several rare pathogenic/likely pathogenic genomic variants in genes CFTR, MASP2, MEFV, TNFRSF13B, and RNASEL likely contribute to the severe infection outcomes in our patient cohort. These results represent an insight into the Slovenian genomic diversity associated with a severe COVID-19 outcome. severe COVID-19 severe outcome of SARS-CoV-2 infection whole-genome sequencing genetic susceptibility rare variants human rare genomic variants true false true Angleški jezik Ni določen Neznano 2026-06-11 09:16:13 2026-06-11 09:16:13 2026-06-12 03:54:41 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 15. 8. 2024; str. 1-16 iss. 14, [article no.] 7674 Vol. 25 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.9 1422-0067 10.3390/ijms25147674 204417283 RAZ_Kovanda_Anja_2024.pdf RAZ_Kovanda_Anja_2024.pdf 1 4EBE5330FD8D7C6D9BF42ABF96BBD7B9 c4581494d910d5926644c9464e970dd66226cabf4e5d499958d3f27874c159f0 9f4d1796-6565-11f1-9215-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=45184 https://www.mdpi.com/1422-0067/25/14/7674 0 6fa7a674-6565-11f1-9215-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=45183 Univerzitetni klinični center Ljubljana 0 0 0