Published April 11, 2023 | Version v1
Journal article Open

A joint transcriptome-wide association study across multiple tissues identifies candidate susceptibility genes for breast cancer

  • 1. Department of Public Health Sciences, University of Chicago
  • 2. Section of Genetic Medicine, Department of Medicine, University of Chicago
  • 3. Section of Hematology & Oncology, Department of Medicine, University of Chicago

Description

To identify novel candidate genes, we performed a GWAS analysis in a breast cancer dataset from UK Biobank (UKB) and combined the results with the GWAS results of the Breast Cancer Association Consortium (BCAC) by a meta-analysis. Using the summary statistics from the meta-analysis, we performed a joint TWAS analysis that combined TWAS signals from multiple tissues using the aggregated Cauchy association test (ACAT). We used expression prediction models trained in 11 tissues that are potentially relevant to breast cancer from the Genotype-Tissue Expression data.

The file GWAS_meta_analysis_summary_code.tar.gz includes meta-analysis results and related code; multi-tissue_TWAS_acat_summary.tar.gz includes multi-tissue TWAS results by ACAT method and related code; S-predixcan-by-tissue_summary.tar.gz includes single tissue TWAS results for 11 tissues and related code.

 

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