Abstract
Summary Phenopolis is an open-source web server which provides an intuitive interface to genetic and phenotypic databases. It integrates analysis tools which include variant filtering and gene prioritisation 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 disease.
Availability and Implementation A demo of the website is available at http://phenopolis.github.io (username: demo, password: demo123). If you wish to install a local copy, souce code and installation instruction are available at https://github.com/pontikos/phenopolis. The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts.
Contact n.pontikos{at}ucl.ac.uk
Footnotes
14 Centre for Ophthalmology & Vision Sciences, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester Manchester, UK.
