DESE: estimating driver tissues by selective expression of genes associated with complex diseases or traits

Genome Biol. 2019 Nov 6;20(1):233. doi: 10.1186/s13059-019-1801-5.


The driver tissues or cell types in which susceptibility genes initiate diseases remain elusive. We develop a unified framework to detect the causal tissues of complex diseases or traits according to selective expression of disease-associated genes in genome-wide association studies (GWASs). This framework consists of three components which run iteratively to produce a converged prioritization list of driver tissues. Additionally, this framework also outputs a list of prioritized genes as a byproduct. We apply the framework to six representative complex diseases or traits with GWAS summary statistics, which leads to the estimation of the lung as an associated tissue of rheumatoid arthritis.

Keywords: Disease driver-tissues; Gene-based association; Genome-wide association study; Susceptibility genes; Tissue-selective expression.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Algorithms
  • Arthritis, Rheumatoid / genetics
  • Arthritis, Rheumatoid / metabolism
  • Bipolar Disorder / genetics
  • Bipolar Disorder / metabolism
  • Body Height / genetics
  • Brain / metabolism
  • Cholesterol / genetics
  • Coronary Artery Disease / genetics
  • Coronary Artery Disease / metabolism
  • Disease / etiology*
  • Gene Expression*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Genomics / methods*
  • Humans
  • Schizophrenia / genetics
  • Schizophrenia / metabolism


  • Cholesterol