We expect that ROBOKOP will find broad application across many biomedical fields and other scientific disciplines due to its generalizability, speed to discovery and generation of mechanistic hypotheses, and open nature. The answer sets included potential intermediary genes, as well as supporting evidence that might explain the observed associations.Ĭonclusions: We demonstrate real-world application of ROBOKOP to generate mechanistic hypotheses for associations between workplace chemical exposures and immune-mediated diseases. Results: ROBOKOP successfully returned answer sets for three queries that were posed in the context of the driving examples. We highlight the following three exemplar associations: carbon monoxide-multiple sclerosis, ammonia-asthma, and isopropanol-allergic disease. We then used ROBOKOP to (1) validate the associations by determining whether plausible connections exist within the ROBOKOP knowledge graph and (2) propose biological mechanisms that might explain them and serve as hypotheses for subsequent testing. Methods: We analyzed EPR survey data and identified 45 associations between workplace chemical exposures and immune-mediated diseases, as self-reported by study participants (n= 4574), with 20 associations significant at P<.05 after false discovery rate correction. Objective: We aimed to apply ROBOKOP to survey data on workplace exposures and immune-mediated diseases from the Environmental Polymorphisms Registry (EPR) within the National Institute of Environmental Health Sciences. Users can also posit questions through direct Cypher query of the underlying knowledge graph, which currently contains roughly 6 million nodes or biomedical entities and 140 million edges or predicates describing the relationship between nodes, drawn from over 30 curated data sources. The ROBOKOP user interface allows users to posit questions and explore answer subgraphs. ROBOKOP consists of both a front-end user interface and a back-end knowledge graph. We developed an open biomedical knowledge graph–based system termed Reasoning Over Biomedical Objects linked in Knowledge Oriented Pathways (ROBOKOP). University of North Carolina at Chapel Hillīackground: Knowledge graphs are a common form of knowledge representation in biomedicine and many other fields. JMIR Bioinformatics and Biotechnology 16 articles.JMIR Biomedical Engineering 59 articles.JMIR Perioperative Medicine 65 articles.Journal of Participatory Medicine 69 articles.JMIR Rehabilitation and Assistive Technologies 168 articles.JMIR Pediatrics and Parenting 224 articles.Interactive Journal of Medical Research 244 articles.JMIR Public Health and Surveillance 940 articles.Journal of Medical Internet Research 6775 articles.
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