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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Authors :
Groza, Tudor
Köhler, Sebastian
Moldenhauer, Dawid
Vasilevsky, Nicole
Baynam, Gareth
Zemojtel, Tomasz
Schriml, Lynn Marie
Kibbe, Warren Alden
Schofield, Paul N.
Beck, Tim
Vasant, Drashtti
Brookes, Anthony J.
Zankl, Andreas
Washington, Nicole L.
Mungall, Christopher J.
Lewis, Suzanna E.
Haendel, Melissa A.
Parkinson, Helen
Robinson, Peter N.
Source :
American Journal of Human Genetics. Jul2015, Vol. 97 Issue 1, p111-124. 14p.
Publication Year :
2015

Abstract

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 PubMed 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00029297
Volume :
97
Issue :
1
Database :
Academic Search Index
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
103558706
Full Text :
https://doi.org/10.1016/j.ajhg.2015.05.020