Journal article icon

Journal article

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Abstract:

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...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1093/bioinformatics/btx147

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Expand authors...
R.P. Fighting Blindness More from this funder
Fight for Sight More from this funder
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:
1460-2059
ISSN:
1367-4803
Pmid:
28334266
Source identifiers:
687292
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


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP