Please use this identifier to cite or link to this item:
|Title:||The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.|
Schriml, L. M.
Kibbe, W. A.
Schofield, P. N.
Brookes, Anthony J.
Washington, N. L.
Mungall, C. J.
Lewis, S. E.
Haendel, M. A.
Robinson, P. N.
|Publisher:||Elsevier (Cell Press)|
|Citation:||American Journal of Human Genetics, 2015, 97 (1), pp. 111-124|
|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.|
|Rights:||This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).|
|Description:||Supplemental Data include 7 figures and 41 tables and can be found with this article online at http://dx.doi.org/10.1016/j.ajhg.2015.05.020.|
|Appears in Collections:||Published Articles, Dept. of Genetics|
Files in This Item:
|1-s2.0-S0002929715002347-main.pdf||Published (publisher PDF)||1.89 MB||Adobe PDF||View/Open|
Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.