Journal article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
- Abstract:
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Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.A demo of the website is available at https://phenopolis.github.io . If you wish to install a local copy, source c...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Accepted manuscript, plain, 21.8KB)
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(Accepted manuscript, plain, 73.7KB)
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- Publisher copy:
- 10.1093/bioinformatics/btx147
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Authors
Funding
UKIRDC
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Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Bioinformatics Journal website
- Volume:
- 33
- Issue:
- 15
- Pages:
- 2421-2423
- Publication date:
- 2017-03-15
- Acceptance date:
- 2017-03-14
- DOI:
- EISSN:
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1460-2059
- ISSN:
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1367-4803
- Pmid:
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28334266
- Source identifiers:
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687292
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:687292
- UUID:
-
uuid:0c258e6d-2ab0-42f5-b3ba-5835617c1888
- Local pid:
- pubs:687292
- Deposit date:
- 2017-09-06
Terms of use
- Copyright holder:
- Pontikos et al
- Copyright date:
- 2017
- Notes:
- Copyright © 2017 The Authors. Published by Oxford University Press. This is the accepted manuscript version of the article. The final version is available online from Oxford University Press at: https://doi.org/10.1093/bioinformatics/btx147
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