RT Journal Article
SR Electronic
T1 Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 084582
DO 10.1101/084582
A1 Nikolas Pontikos
A1 Jing Yu
A1 Fiona Blanco-Kelly
A1 Tom Vulliamy
A1 Tsz Lun Wong
A1 Cian Murphy
A1 Valentina Cipriani
A1 Alessia Fiorentino
A1 Gavin Arno
A1 Daniel Greene
A1 Julius OB Jacobsen
A1 Tristan Clark
A1 David S Gregory
A1 Andrea Nemeth
A1 Stephanie Halford
A1 Susan Downes
A1 Graeme C Black
A1 Andrew R Webster
A1 Alison Hardcastle
A1 Vincent Plagnol
YR 2016
UL http://biorxiv.org/content/early/2016/10/31/084582.abstract
AB 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