Relation-weighted Link Prediction for Disease Gene Identification

Identification of disease genes, which are a set of genes associated with a disease, plays an important role in understanding and curing diseases. In this paper, we present a biomedical knowledge graph designed specifically for this problem, propose a novel machine learning method that identifies disease genes on such graphs by leveraging recent advances in network biology and graph representation learning, study the effects of various relation types on prediction performance, and empirically demonstrate that our algorithms outperform its closest state-of-the-art competitor in disease gene identification by 24.1%. We also show that we achieve higher precision than Open Targets, the leading initiative for target identification, with respect to predicting drug targets in clinical trials for Parkinson's disease.

Biomedical Information Extraction for Disease Gene Prioritization

We introduce a biomedical information extraction (IE) pipeline that extracts biological relationships from text and demonstrate that its components, such as named entity recognition (NER) and relation extraction (RE), outperform state-of-the-art in BioNLP. We apply it to tens of millions of PubMed abstracts to extract protein-protein interactions (PPIs) and augment these extractions to a biomedical knowledge graph that already contains PPIs extracted from STRING, the leading structured PPI database. We show that, despite already containing PPIs from an established structured source, augmenting our own IE-based extractions to the graph allows us to predict novel disease-gene associations with a 20% relative increase in hit@30, an important step towards developing drug targets for uncured diseases.