Article

In vivo measurement and prediction of cell-type-resolved non-coding variant effects in human immunity

2026-05-06

Abstract excerpt

Interpreting non-coding variant effects in their native cellular context is the central problem in medical genomics. Using paired single-cell ATAC-seq and whole-genome sequencing in human immune cells, we measured allele-specific regulatory effects at 129,241 heterozygous variants across seven cell types. We trained REG-FOCUS, a transferable sequence-and-chromatin framework, and extended predictions to 1,188,417 c...

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Literature Corpus work: d6e1ef38-c36c-5d83-9020-1ffe38854f49
DOI: 10.64898/2026.05.05.26352448

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