Genetics
Multiancestry MS GWAS Meets Single-Cell and Spatial Data11, Oct 2026
Topic hub
Whole Exome Sequencing
Whole exome sequencing content is collected here as a practical hub for variant discovery, filtering, interpretation, and familial genetics workflows.
Core Questions
How should rare variants be filtered and prioritized after WES?
How can segregation evidence strengthen candidate variant interpretation?
Which annotation and pathogenicity signals are useful without overclaiming?
Topic Clusters
Core Articles
Genetics
Multiancestry MS GWAS Meets Single-Cell and Spatial Data
11, Oct 2026This post covers Fujimoto and colleagues' 2026 Nature Genetics study, the first MS GWAS in an East Asian population and a four-population...
Genetics
From an MS GWAS Locus to the Gene It Acts Through
08, Oct 2026This post covers the variant-to-gene half of Upcott and colleagues' 2026 medRxiv preprint, which paired the MS susceptibility GWAS with blood and...
Genetics
Single-Nucleus Profiles and Lesion Geography in the MS Cortex
08, Oct 2026This post covers Schirmer and colleagues' 2019 Nature study, which applied single-nucleus RNA sequencing and spatial transcriptomics to cortical...
Genetics
MS Risk Variants, Single Cell Expression, and MRI Brain Volume
02, Oct 2026This post covers Upcott and colleagues' 2026 medRxiv preprint, which builds cell-type specific transcriptional risk scores for MS by weighting...
Genetics
A Choroid Plexus Endophenotype for HLA Burden in MS
02, Oct 2026This post covers Preziosa and colleagues' 2026 study in Neurology: Neuroimmunology & Neuroinflammation as an imaging-genetics design. It follows...
Genetics
MS Genetic Risk, Healthy Brains, and an Effect Measured in Milliseconds
29, Sep 2026This post covers Feng and colleagues' 2026 study in Magnetic Resonance in Medical Sciences, which tested whether a polygenic risk score for...
Genetics
An Iron-Responsive MS Subtype, Proposed From Two Children
12, Sep 2026This post covers van Rensburg and colleagues' 2019 report in Molecular Genetics and Metabolism Reports, a whole exome sequencing study of two boys...
Genetics
When MS Risk Factors Multiply With Genotype Instead of Adding
09, Sep 2026This post covers Olsson, Barcellos and Alfredsson's 2017 Nature Reviews Neurology review on gene-environment interaction in multiple sclerosis. It...
Genetics
MS Genetic Risk, Healthy Brains, and an Effect Measured in Milliseconds
07, Sep 2026This post covers Feng and colleagues' 2026 study in Magnetic Resonance in Medical Sciences, which tested whether a polygenic risk score for...
Genetics
Twelve Genes, Twenty Years, No Answer: Vitamin D and Genetic Susceptibility to MS
31, Aug 2026This post covers a 2021 Biochemical Genetics review by Scazzone and colleagues on SNPs in 12 vitamin D pathway genes and multiple sclerosis...
Genetics
Genetics, Lipids, and Disability Progression in Multiple Sclerosis: Understanding a Gene–Environment Interaction
16, Aug 2026This blog post examines research by Zhang and colleagues investigating how lipid-related genetic variants may influence disability progression in...
Genetics
Genetic Variation in Lipid Metabolism and Multiple Sclerosis Progression: Evidence for a Gene–Environment Interaction
11, Aug 2026This blog post examines research by Zhang and colleagues investigating how lipid-related genetic polymorphisms may influence disability...