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

Pontikos, N; Yu, J; Moghul, I; Withington, L; Blanco-Kelly, F; Vulliamy, T; Wong, TL; ... Plagnol, V; + view all (2017) Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics , 33 (15) pp. 2421-2423. 10.1093/bioinformatics/btx147. Green open access

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Abstract

SUMMARY: 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. AVAILABILITY AND IMPLEMENTATION: A demo of the website is available at https://phenopolis.github.io. If you wish to install a local copy, source code and installation instruction are available at https://github.com/phenopolis. The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts.

Type: Article
Title: Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/bioinformatics/btx147
Publisher version: http://dx.doi.org/10.1093/bioinformatics/btx147
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio
URI: https://discovery.ucl.ac.uk/id/eprint/1547359
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