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Population-scale single-nucleus multi-omic profiling of skeletal muscle reveals extensive context-specific genetic regulation.
Nature Genetics · · Journal Article · Open access
Varshney, Manickam + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
Genetic multiplexing across 287 frozen human skeletal muscle biopsies maps 13 cell types and links >7,000 eQTLs with >100,000 caQTLs, including significant G×C interaction.
- Why it matters: Polygenic metabolic traits and diseases require pinpointing cell types, regulatory elements, target genes, and causal variants, but context-specific regulation in human muscle remains hard to resolve.
- What they did: The study generated population-scale single-nucleus chromatin accessibility (snATAC-seq) and transcriptome (snRNA-seq) maps, integrating genetic variation to call eQTLs and caQTLs across cell types.
- The result: Nearly 2,000 eGenes colocalized with caQTL, and almost 3,500 GWAS signals across 38 traits colocalized with sn-eQTL/caQTL, typically with caQTL rather than eQTL.
The findingWhy it mattersWhat they didThe result
- Open access