Title |
Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
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Published in |
Scientific Reports, June 2015
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DOI | 10.1038/srep10888 |
Pubmed ID | |
Authors |
Robert Hoehndorf, Paul N. Schofield, Georgios V. Gkoutos |
Abstract |
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet. Exploiting these resources, several computational methods have been developed for integration and analysis of phenotype data to identify the genetic etiology of diseases or suggest plausible interventions. A similar resource would be highly useful not only for rare and Mendelian diseases, but also for common, complex and infectious diseases. We apply a semantic text-mining approach to identify the phenotypes (signs and symptoms) associated with over 6,000 diseases. We evaluate our text-mined phenotypes by demonstrating that they can correctly identify known disease-associated genes in mice and humans with high accuracy. Using a phenotypic similarity measure, we generate a human disease network in which diseases that have similar signs and symptoms cluster together, and we use this network to identify closely related diseases based on common etiological, anatomical as well as physiological underpinnings. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Canada | 3 | 13% |
United Kingdom | 3 | 13% |
United States | 3 | 13% |
Korea, Republic of | 1 | 4% |
South Africa | 1 | 4% |
Comoros | 1 | 4% |
Spain | 1 | 4% |
Unknown | 10 | 43% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 13 | 57% |
Scientists | 8 | 35% |
Practitioners (doctors, other healthcare professionals) | 2 | 9% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 3 | 2% |
South Africa | 1 | <1% |
Belgium | 1 | <1% |
Denmark | 1 | <1% |
Spain | 1 | <1% |
United States | 1 | <1% |
Unknown | 138 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 37 | 25% |
Researcher | 29 | 20% |
Student > Master | 17 | 12% |
Professor | 9 | 6% |
Student > Doctoral Student | 7 | 5% |
Other | 25 | 17% |
Unknown | 22 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 38 | 26% |
Biochemistry, Genetics and Molecular Biology | 25 | 17% |
Computer Science | 22 | 15% |
Medicine and Dentistry | 12 | 8% |
Engineering | 5 | 3% |
Other | 14 | 10% |
Unknown | 30 | 21% |