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Genetic variants shape single-cell chromatin accessibility and disease risk.
Nature · · Journal Article · Open access
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Abstract ↗AI summary
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Single-cell ATAC-seq of 3.5 million peripheral blood mononuclear cells from 1,042 donors identifies 243,225 caQTLs across 28 immune cell types, with 60% cell-type specific.
- Why it matters: Genetic variants can regulate disease-relevant genes, but single-cell multi-omics data have been too limited to map how regulatory effects differ by cell type and state.
- What they did: The study tested 440,996 chromatin accessibility peaks and performed rare variant analysis, caQTL–eQTL colocalization using 5.4 million PBMCs, and graph neural network peak-gene inference.
- The result: caQTLs colocalized 4.5–22.6% more GWAS signals than eQTLs alone, and incorporating caQTL layers improved peak-gene link accuracy by up to 17.2%, adding 128 transcription factor-target pairs.
The findingWhy it mattersWhat they didThe result
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- Open access
- 3 cites