Discovering implicit associations between genes and hereditary diseases

We propose an approach to predicting implicit gene-disease associations based on the inference network, whereby genes and diseases are represented as nodes and are connected via two types of intermediate nodes: gene functions and phenotypes. To estimate the probabilities involved in the model, two learning schemes are compared; one baseline using co-annotations of keywords and the other taking advantage of free text. Additionally, we explore the use of domain ontologies to complement data sparseness and examine the impact of full text documents. The validity of the proposed framework is demonstrated on the benchmark data set created from real-world data.