Nature Communications (Jan 2023)

MiXcan: a framework for cell-type-aware transcriptome-wide association studies with an application to breast cancer

  • Xiaoyu Song,
  • Jiayi Ji,
  • Joseph H. Rothstein,
  • Stacey E. Alexeeff,
  • Lori C. Sakoda,
  • Adriana Sistig,
  • Ninah Achacoso,
  • Eric Jorgenson,
  • Alice S. Whittemore,
  • Robert J. Klein,
  • Laurel A. Habel,
  • Pei Wang,
  • Weiva Sieh

DOI
https://doi.org/10.1038/s41467-023-35888-4
Journal volume & issue
Vol. 14, no. 1
pp. 1 – 15

Abstract

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Conventional transcriptome-wide association study (TWAS) approaches predict genetically regulated gene expression at the tissue level. Here, the authors develop a framework for cell-type-aware TWAS that predicts cell-type level expression from genotype data and identifies disease-associated genes with cell-type-specific effects.