Author

Yoshihiro Tomofuji

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Open access Aug 2026

Identifying the causal allele in the CD40 autoimmune locus enables discovery of context-specific trans-effects in B cells

Thousands of genetic variants are associated with autoimmune diseases, but causal variants, their mechanisms, and the pathogenic context in which they act are elusive. Knowledge of pathogenic contexts may enable effective targeted therapies, instead of broad immunosuppressive approaches. First, to focus on the genetics...

Yoshihiro Tomofuji, Ze-Peng Mu, Hafsa M Mire et al. · bioRxiv · 0 citations

Open access Aug 2026

Efficient genome-wide mapping of reproducible, context-dependent eQTLs at single-cell resolution

Single-cell technologies enable linking disease-risk variants to gene regulatory effects in specific cell-state contexts. However, most so called “single-cell eQTL” studies use a “pseudobulking” strategy to identify expression Quantitative Trait Loci (eQTLs), obscuring subtle dynamic regulatory effects of disease allel...

José Alquicira-Hernández, E. Dorans, Yoshihiro Tomofuji et al. · bioRxiv · 0 citations