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


METHODS
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.


BACKGROUND
n.pontikos@ucl.ac.uk.


BACKGROUND
Supplementary data are available at Bioinformatics online.
UCL Genetics Institute, University College London, London WC1E 6BT, UK.|Institute of Ophthalmology, University College London, London EC1V 9EL, UK.|Moorfields Eye Hospital, London EC1V 2PD, UK.
Nikolas
N
Pontikos
Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Jing
J
Yu
UCL Cancer Institute, University College London, London WC1E 6DD, UK.
Ismail
I
Moghul
RP Fighting Blindness, PO Box 350, Buckingham, MK18 1GZ, UK.
Lucy
L
Withington
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.|Moorfields Eye Hospital, London EC1V 2PD, UK.
Fiona
F
Blanco-Kelly
Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AT, UK.
Tom
T
Vulliamy
Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AT, UK.
Tsz Lun Ernest
TLE
Wong
UCL Genetics Institute, University College London, London WC1E 6BT, UK.|Warwick Medical School, The University of Warwick, Coventry CV4 7AL, UK.
Cian
C
Murphy
UCL Genetics Institute, University College London, London WC1E 6BT, UK.|Institute of Ophthalmology, University College London, London EC1V 9EL, UK.|Moorfields Eye Hospital, London EC1V 2PD, UK.
Valentina
V
Cipriani
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Alessia
A
Fiorentino
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.|Moorfields Eye Hospital, London EC1V 2PD, UK.
Gavin
G
Arno
Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.|Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.
Daniel
D
Greene
Barts and The London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, John Vane Building, Charterhouse Square, London EC1M 6BQ, UK.
Julius O B
JOB
Jacobsen
Computer Science Department, University College London, London WC1E 6BT, UK.
Tristan
T
Clark
Computer Science Department, University College London, London WC1E 6BT, UK.
David S
DS
Gregory
Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Andrea M
AM
Nemeth
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Stephanie
S
Halford
Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.
Chris F
CF
Inglehearn
Oxford Eye Hospital, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Susan
S
Downes
Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
Graeme C
GC
Black
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.|Moorfields Eye Hospital, London EC1V 2PD, UK.
Andrew R
AR
Webster
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Alison J
AJ
Hardcastle
UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Vincent
V
Plagnol
D019295:Computational Biology / Q000379:methods*; D016208:Databases, Factual; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D010641:Phenotype; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012984:Software