This case study demonstrates: Drug development hinges on identifying genetic disease factors. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease, with SOD1, C9ORF72, TARDBP, and FUS as common genetic culprits. Biorelate’s text mining extracts cause-and-effect relationships, forming a comprehensive knowledge graph (KG). We use this KG to rank potential ALS genetic drivers, revealing both established and novel candidates. Traversing the KG identifies pathways linking ALS and potential novel genetic links like ATP13A2.
