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

• Main Authors: Lin Jiang, Chao Xue, Sheng Dai, Shangzhen Chen, Peikai Chen, Pak Chung Sham, Haijun Wang, Miaoxin Li
• Format: Article
• Language: English
• Published: BMC 2019-11-01
• Series: Genome Biology
• Subjects: Tissue-selective expression; Disease driver-tissues; Susceptibility genes; Gene-based association; Genome-wide association study
• Online Access: http://link.springer.com/article/10.1186/s13059-019-1801-5

Abstract 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.