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

Overview of attention for article published in American Journal of Human Genetics, June 2015
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • High Attention Score compared to outputs of the same age and source (85th percentile)

Mentioned by

blogs
1 blog
twitter
83 X users
facebook
1 Facebook page
googleplus
4 Google+ users
f1000
1 research highlight platform

Citations

dimensions_citation
196 Dimensions

Readers on

mendeley
319 Mendeley
citeulike
6 CiteULike
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Title
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Published in
American Journal of Human Genetics, June 2015
DOI 10.1016/j.ajhg.2015.05.020
Pubmed ID
Authors

Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, Nicole Vasilevsky, Gareth Baynam, Tomasz Zemojtel, Lynn Marie Schriml, Warren Alden Kibbe, Paul N. Schofield, Tim Beck, Drashtti Vasant, Anthony J. Brookes, Andreas Zankl, Nicole L. Washington, Christopher J. Mungall, Suzanna E. Lewis, Melissa A. Haendel, Helen Parkinson, Peter N. Robinson

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.

X Demographics

X Demographics

The data shown below were collected from the profiles of 83 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 319 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 9 3%
Spain 3 <1%
Germany 2 <1%
United Kingdom 2 <1%
Netherlands 1 <1%
South Africa 1 <1%
Iceland 1 <1%
Unknown 300 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 86 27%
Student > Ph. D. Student 67 21%
Student > Master 27 8%
Other 22 7%
Student > Postgraduate 15 5%
Other 55 17%
Unknown 47 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 76 24%
Biochemistry, Genetics and Molecular Biology 55 17%
Medicine and Dentistry 49 15%
Computer Science 41 13%
Business, Management and Accounting 6 2%
Other 38 12%
Unknown 54 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 61. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 April 2017.
All research outputs
#707,357
of 25,712,965 outputs
Outputs from American Journal of Human Genetics
#345
of 5,918 outputs
Outputs of similar age
#7,873
of 279,031 outputs
Outputs of similar age from American Journal of Human Genetics
#7
of 48 outputs
Altmetric has tracked 25,712,965 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,918 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.4. This one has done particularly well, scoring higher than 94% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 279,031 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 97% of its contemporaries.
We're also able to compare this research output to 48 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.