Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis

Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis

Abstract Multiple sclerosis (MS) is an immune-mediated neurodegenerative disease affecting the central nervous system with many known genetic risk factors. Although genome-wide association studies (GWAS) have identified common genetic variants with small effects associated with MS, the role of rare...

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Bibliographic Details
Main Authors: Aleksander Turk, Aleš Maver, Peter Juvan, Jelena Drulović, Šarlota Mesaroš, Ivana Novaković, Nada Starčević Čizmarević, Smiljana Ristič, Ivana Stanković Matić, Borut Peterlin
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Whole exome sequencing (WES)
Multiple sclerosis
Rare variants
Rare pathological changes
Candidate genes
Burden analysis
Online Access:https://doi.org/10.1038/s41598-025-04741-7
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