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

  title={The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.},
  author={Tudor Groza and Sebastian K{\"o}hler and Dawid Moldenhauer and Nicole A Vasilevsky and Gareth Baynam and Tomasz Zemojtel and Lynn M. Schriml and Warren A. Kibbe and Paul N. Schofield and Tim Beck and Drashtti Vasant and Anthony J. Brookes and Andreas Zankl and Nicole L. Washington and Christopher J Mungall and Suzanna E. Lewis and Melissa A. Haendel and Helen E. Parkinson and Peter N. Robinson},
  journal={American journal of human genetics},
  volume={97 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… CONTINUE READING
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