Ontology highlight
ABSTRACT:
SUBMITTER: Groza T
PROVIDER: S-EPMC4572507 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Groza Tudor T Köhler Sebastian S Moldenhauer Dawid D Vasilevsky Nicole N Baynam Gareth G Zemojtel Tomasz T Schriml Lynn Marie LM Kibbe Warren Alden WA Schofield Paul N PN Beck Tim T Vasant Drashtti D Brookes Anthony J AJ Zankl Andreas A Washington Nicole L NL Mungall Christopher J CJ Lewis Suzanna E SE Haendel Melissa A MA Parkinson Helen H Robinson Peter N PN
American journal of human genetics 20150625 1
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 ...[more]