PheSeq, A Bayesian Deep Learning Model to Enhance and Interpret the Gene Disease Association Studies

An evidence-augmented data fusion is run to support the driver gene discovery via interpretable literature evidence and omics data. Case studies in Alzheimer's disease, Lung cancer and Breast cancer.

Gene-GO Pathology Network for Breast Cancer

Gene Type Gene Count Number of related GO Number of literature evidences
Reported genes by literature 44 50 1,023
Reported genes by both 6 11 36
Reported genes by GWAS 15 20 46