TY - JOUR T1 - Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data JF - bioRxiv DO - 10.1101/084582 SP - 084582 AU - Nikolas Pontikos AU - Jing Yu AU - Fiona Blanco-Kelly AU - Tom Vulliamy AU - Tsz Lun Wong AU - Cian Murphy AU - Valentina Cipriani AU - Alessia Fiorentino AU - Gavin Arno AU - Daniel Greene AU - Julius OB Jacobsen AU - Tristan Clark AU - David S Gregory AU - Andrea Nemeth AU - Stephanie Halford AU - Susan Downes AU - Graeme C Black AU - Andrew R Webster AU - Alison Hardcastle AU - Vincent Plagnol Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/10/31/084582.abstract N2 - 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.ukSupplementary information http://phenopolis.github.io ER -