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0A population-scale multiome atlas of over ten million peripheral blood mononuclear cells from 1,108 Finnish individuals was generated using paired single-nucleus RNA-sequencing and chromatin accessibility profiling. Researchers systematically mapped molecular quantitative trait loci, identifying tens of thousands of expression quantitative trait loci and hundreds of thousands of chromatin accessibility quantitative trait loci and peak-gene links across diverse immune cell types. The study established a variant-to-function framework that successfully resolved regulatory mechanisms for numerous disease-associated variants and uncovered a multilayered regulatory buffering mechanism at evolutionarily constrained genes.
References:
Kanai M, Delorey T M, Honkanen J, et al. Population-scale immune multiome atlas reveals regulatory disease mechanisms[J]. Nature, 2026: 1-15.
