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-HPO Pathology Network for Alzheimer's Disease

Gene Type Gene Count Number of related HPO Number of literature evidences
Reported genes by literature 38 46 7,300
Reported genes by both 12 46 3,382
Reported genes by GWAS 32 16 95