Researchers release population-scale immune multiome atlas linking regulatory variants to disease

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By combining single-cell resolution with population-scale sampling, this atlas could help close the long-standing gap between GWAS hits and their functional mechanisms, since most disease-associated variants lie in non-coding regulatory DNA rather than protein-coding genes. Researchers suggest such resources may improve fine-mapping of causal variants and clarify how immune cell context shapes disease risk, though translating these QTL associations into confirmed causal mechanisms will likely require further functional validation.

• A new multiome atlas profiles gene expression and chromatin accessibility across immune cells at population scale.
• The resource generates single-cell eQTLs and chromatin accessibility QTLs to link genetic variants to regulatory function.
• It builds on existing frameworks like GTEx, ENCODE and FinnGen to aid interpretation of disease-associated genetic variation.