20.500.12556/RUL-182411 Dopolnilni podatki za doktorsko disertacijo raziskovalni podatki, obravnavani v doktorskem delu Supplementary data for the doctoral dissertation research data underlying the doctoral dissertation Raziskovalni podatki so bili zbrani v okviru raziskav v genetske dejavnike tveganja za multiplo sklerozo (MS) na Kliničnem inštitutu za genomsko medicino. Iz krvi izolirana DNK je bila uporabljena za izvedbo sekvenciranja celotnega eksoma ali genoma. Podatki o posameznih redkih, predvideno patogenih različicah so v formatu Variant Call Format (VCF) in vključujejo podatke o različicah iz do 3866 kontrol, 87 primerov z družinsko MS in do 128 primerov s sporadično MS. Vsi preiskovanci so pristali na uporabo svojih podatkov za raziskovalne namene in podpisali privolilnice. Raziskavo je potrdila Komisija za medicinsko etiko Republike Slovenije (0120 -66/2024-2711-3). Podatki vključujejo različice, njihove lastnosti, alelno frekvenco, predvideno patogenost iz predikcijskih algoritmov SIFT, Polyphen2 HDIV, Polyphen2 HVAR, LRT, MutationTaster in CADD, globino branja, kvaliteto klicev in dodatne anotacije orodja Variant Effect Predictor. Zbiranje podatkov sta podpirala projekta Javne agencije za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije P3-0326 in P4-0220. The research data was collected as part of research into the genetic risk factors for multiple sclerosis (MS) at the Clinical Institute for Genomic Medicine. DNA isolated from blood was used to perform whole exome or genome sequencing. Data on individual rare, predicted pathogenic variants are in Variant Call Format (VCF) format and include variant data from up to 3866 controls, 87 cases with familial MS and up to 128 cases with sporadic MS. All subjects agreed to the use of their data for research purposes and signed informed consent forms. The research was approved by the Medical Ethics Commission of the Republic of Slovenia (0120-66/2024-2711-3). The data include variants, their properties, allele frequency, predicted pathogenicity from the prediction algorithms SIFT, Polyphen2 HDIV, Polyphen2 HVAR, LRT, MutationTaster and CADD, read depth, call quality and additional annotations from the Variant Effect Predictor tool. Data acquisition was made possible with the support of the Slovenian Research and Innovation Agency programs P3-0326 and P4-0220. redke različice multipla skleroza sekvenciranje celotnega eksoma sekvenciranje naslednje generacije rare variants multiple sclerosis whole exome sequencing next-generation sequencing true false false Slovenski jezik Angleški jezik Ljubljana, Slovenija Od/from 2014-01-01 do/to 2025-01-01 Neznano 2026-05-11 09:49:51 2026-05-18 20:56:26 2026-05-19 04:36:14 0000-00-00 00:00:00 2026 0 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 PREBERI_ME.txt PREBERI_ME.txt PREBERI ME 1 927FB4A9C170751AA6B2CC38DFEF6432 e146deed7db1dc1ce4be636bc9a60e68f03c4669bc5bb4f33b89fe564a744920 06c3f98b-4d0e-11f1-b0ab-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=233637 README.txt README.txt README 1 3CFC3F368026A5827D5BD5C3B0F72646 e8b380acd3dd639f9986e4807a14385222548b1fe45e18c51b7f296f9f9d18b9 06e2dfdf-4d0e-11f1-b0ab-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=233638 Dodatni_podatki.xlsx Dodatni_podatki.xlsx Dodatni podatki 1 2F25BB9FEF30F6C648E27C40B1FFEC02 560cbb316581bc5aa0931ad78f94d2a50ff970e4e9b9c51012e8aba3fcaaecd0 2d741d54-4d0e-11f1-b0ab-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=233639 MS_fam_anonymized_clean.vcf.gz MS_fam_anonymized_clean.vcf.gz MS_fam_anonymized_clean 1 8130C917AE5557BEAB6F8DF79C1B21A8 fa21b81982852e1771980d02ee8faa05c0cbee90b41a227e56e2c2d931a01d78 3dc96f16-4d0e-11f1-b0ab-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=233640 MS_GWAS_anonymized_data.vcf.gz MS_GWAS_anonymized_data.vcf.gz MS_GWAS_anonymized_data 1 048B8249272F665297A9E73A65BB12D0 b6d93b239442fdaf2b2b041ed084fae2c3aa22701bcb3c01a938b928d276197f 3de04561-4d0e-11f1-b0ab-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=233641 Biotehniška fakulteta Sinteza Združevanje Drugi 0 0 0