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Cell-type-specific eQTLs underlie the genetic architecture of complex traits

Nature Bioinformatics AI Minhui Chen, Xinpei Wang, Lena Krockenberger, Rika Tyebally, Jeremy J. Berg, Sebastian Pott, Jonathan Flint, Joseph E. Powell, Brunilda Balliu, Xuanyao Liu, Andy Dahl 2026-08-26

TL;DR - A Nature study uses single-cell RNA sequencing to show that cell-type-specific expression quantitative trait loci (eQTLs) account for much of the genetic architecture of complex traits. The findings help connect trait-associated genetic variants to the particular cellular contexts in which they regulate genes.

  • Maps genetic effects on gene expression at cell-type resolution using single-cell RNA sequencing.
  • Finds that cell-type-specific eQTLs drive a substantial share of complex-trait heritability.
  • Highlights cell-specific gene regulation as a key mechanism linking genetic variation to traits.
  • Supports more precise interpretation of trait-associated variants by identifying their relevant cell types.

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