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
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
T cell receptors (TCRs) orchestrate T cell mediated immunity. While the somatic diversification of TCRs has been extensively studied, inherited genetic diversity in the TCR V, D, and J genes has remained poorly characterized due to the complex, repetitive nature of the TCR loci. As a result, the contribution of g...
S. Mantena, Ali Akbari, S. Raychaudhuri· Journal of Immunology· 0 citations
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