Redke patološke genetske različice kot dejavniki tveganja za multiplo sklerozo : raziskovalni podatki, obravnavani v doktorskem delu

Turk, Aleksander (author), Peterlin, Borut (mentor)

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.

• Language: Slovenian
• Keywords: redke različice, multipla skleroza, sekvenciranje celotnega eksoma, sekvenciranje naslednje generacije
• Work type: Research data
• Typology: 2.20 - Research data
• Geographic coverage: Ljubljana, Slovenija
• Temporal coverage: Od/from 2014-01-01 do/to 2025-01-01
• Organization: BF - Biotechnical Faculty
• Year: 2026
• PID: 20.500.12556/RUL-182411
• Data col. methods: Synthesis; Aggregation; Other
• Publication date in RUL: 18.05.2026

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: English
• Title: Rare pathological genetic variants as risk factors for multiple sclerosis : research data underlying the doctoral dissertation

Abstract

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.

• Keywords: rare variants, multiple sclerosis, whole exome sequencing, next-generation sequencing

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0326
• Name: Ginekologija in reprodukcija: Genomika za personalizirano medicino

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P4-0220
• Name: Primerjalna genomika in genomska biodiverziteta