Abstract
We introduce a MeSH-based method that accurately quantifies similarity between heritable diseases at molecular level. This method effectively brings together the existing information about diseases that is scattered across the vast corpus of biomedical literature.
We prove that sets of MeSH terms provide a highly descriptive representation of heritable disease and that the structure of MeSH provides a natural way of combining individual MeSH vocabularies. We show that our measure can be used effectively in the prediction of candidate disease genes. We developed a web application to query more than 28.5 million relationships between 7,574 hereditary diseases (96% of OMIM) based on our similarity measure.
We prove that sets of MeSH terms provide a highly descriptive representation of heritable disease and that the structure of MeSH provides a natural way of combining individual MeSH vocabularies. We show that our measure can be used effectively in the prediction of candidate disease genes. We developed a web application to query more than 28.5 million relationships between 7,574 hereditary diseases (96% of OMIM) based on our similarity measure.
| Original language | English |
|---|---|
| Article number | 17658 |
| Pages (from-to) | 1-10 |
| Number of pages | 10 |
| Journal | Scientific Reports |
| Volume | 5 |
| Early online date | 3 Dec 2015 |
| DOIs | |
| Publication status | E-pub ahead of print - 3 Dec 2015 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- Disease similarity
- Bioinformatics
- Computer Science
- Hereditary disease modules
- MeSH ontology
- Network Medicine
- Disease gene prediction
Projects
- 2 Finished
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