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The NCBO Annotator and Enrichment Analysis with the 
Human Disease Ontology 
Trish Whetzel, Paea LePendu, Ray Fergerson, M...
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American Society of Human Genetics (ASHG) 2011

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Use of the NCBO Annotator to perform enrichment analysis with the Human Disease Ontology.

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American Society of Human Genetics (ASHG) 2011

  1. 1. The NCBO Annotator and Enrichment Analysis with the Human Disease Ontology Trish Whetzel, Paea LePendu, Ray Fergerson, Mark Musen, Nigam Shah Stanford University, Stanford, CA 250+ Biomedical Ontologies • Create clean lexicons • Normalize via mappings • Aggregate via hierarchies 1 Pattern Analysis 1.04–million patients • Use temporal ordering NCBO Annotator Workflow 2.8–million terms 9.5–million clinical notes • Adds negation detection • Processes 1–million notes per hour 2 Patient t0 t1 … tn Acknowledgements The National Center for Biomedical Ontology is one of the National Centers for Biomedical Computing supported by the NHGRI, the NHLBI, and the NIH Common Fund under grant U54-HG004028. 1 A,B,X B,X,Y … A,X 2 B,X,Z C,Z … B,C 3 A,C,Y B,Z … X Drug Safety Off-label Drug Use 3 Enrichment Analysis For more information on the NCBO, visit http://www.bioontology.org or email support@bioontology.org

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