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Integrated molecular, clinical, and ontological analysis identifies overlooked disease relationships

By Winston A. Haynes, Rohit Vashisht, Francesco Vallania, Charles Liu, Gregory L. Gaskin, Erika Bongen, Shane Lofgren, Timothy E Sweeney, Paul J. Utz, Nigam Shah, Purvesh Khatri

Posted 06 Nov 2017
bioRxiv DOI: 10.1101/214833

Existing knowledge of human disease relationships is incomplete. To establish a comprehensive understanding of disease, we integrated transcriptome profiles of 41,000 human samples with clinical profiles of 2 million patients, across 89 diseases. Based on transcriptome data, autoimmune diseases clustered with their specific infectious triggers, and brain disorders clustered by disease class. Clinical profiles clustered diseases according to the similarity of their initial manifestation and later complications, identifying disease relationships absent in prior co-occurrence analyses. Our integrated analysis of transcriptome and clinical profiles identified overlooked, therapeutically actionable disease relationships, such as between myositis and interstitial cystitis. Our improved understanding of disease relationships will identify disease mechanisms, offer novel therapeutic targets, and create synergistic research opportunities.

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