Translator as an Intuition Driver and Hypothesis Generator

KF is a translational scientist seeking to understand the health consequences of airborne pollutant exposure. As part of this effort, she used ICEES to identify a significant association between exposure to ozone and frequent emergency or inpatient visits for respiratory issues among a defined subset of patients with asthma-like conditions. KF then used ROBOKOP to explore the mechanistic underpinnings of this relationship. Specifically, she ran an AOP structured as follows:

ozone ⇨ gene ⇨ phenotypic

feature. While exploring the answers, KF noticed something interesting: many of the answers included things like developmental process, nervous system development, abnormal sensory perception of sound, visual perception, abnormal peripheral nerve conduction, etc. This prompted a thought: might ozone be associated with asthma and autism? Sure enough, a subsequent search of PubMed revealed a small, but growing, recent body of work on the relationship between ozone and asthma. Moreover, a subsequent query of ICEES revealed that $0.22\%$ of patients in the cohort of patients with asthma-like conditions had diagnoses of both asthma and ozone versus $0.043\%$ in the general population of patients at UNC Health Care System. The investigators are now using TranQL to explore a richer set of relationships between chemical exposures in ICEES cohorts and AOPs in ROBOKOP.

I have a PhD in neurobiology, expertise in inflammatory disorders such as asthma, and a child with autism. And yet, I never would have suspected any sort of relationship between ozone and autism!

— Dr. KF

Translator-enabled serendipity!

References

Bizon C, Cox S, Balhoff J, Kebede Y, Wang P, Morton K, Fecho K, Tropsha A. ROBOKOP KG AND KGB: Integrated Knowledge Graphs from Federated Sources. JCIM, under review.

Morton K, Wang P, Bizon C, Cox S, Balhoff, Kebede Y, Fecho K, Tropsha A. ROBOKOP: an abstraction layer and user interface for knowledge grpahs to support question answering. Bioinformatics, 2019. doi:10.1093/bioinformatics/btz604.