Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 97, Issue 1, Pages 111-124Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2015.05.020
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Funding
- Bundesministerium fur Bildung und Forschung [0313911]
- European Commission [602300]
- Raine Clinician Research Fellowship [20140101]
- National Health and Medical Research Council of Australia [APP1055319, 305444]
- NIH Office of the Director [1R24OD011883-01]
- Australian Research Council Discovery Early Career Researcher Award [DE120100508]
- BioMedBridges project - Research Infrastructures of the FP7 [284209]
- European Molecular Biology Laboratory Core Funds
- Basic Energy Sciences, Office of Science, US Department of Energy [DE-AC02-05CH11231]
- NIH [1R24OD011883-01]
- US Government
- Australian Research Council [DE120100508] Funding Source: Australian Research Council
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The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed a concept-recognition procedure that analyzes the frequencies of HPO disease annotations as identified in over five million Pub Med abstracts by employing an iterative procedure to optimize precision and recall of the identified terms. We derived disease models for 3,145 common human diseases comprising a total of 132,006 HPO annotations. The HPO now comprises over 250,000 phenotypic annotations for over 10,000 rare and common diseases and can be used for examining the phenotypic overlap among common diseases that share risk alleles, as well as between Mendelian diseases and common diseases linked by genomic location. The annotations, as well as the HPO itself, are freely available.
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