Phenopolis
Computational Tool
FAIR Metrics
0 evaluations
General Information
DescriptionAn open platform for harmonization and analysis of genetic and phenotypic data
Homepagehttps://phenopolis.github.io
Publications
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Nikolas Pontikos; Jing Yu; Ismail Moghul; Lucy Withington; Fiona Blanco-Kelly; Tom Vulliamy; Tsz Lun Ernest Wong; Cian Murphy; Valentina Cipriani; Alessia Fiorentino; Gavin Arno; Daniel Greene; Julius OB Jacobsen; Tristan Clark; David S. Gregory; Andrea M. Nemeth; Stephanie Halford; Chris F. Inglehearn; Susan Downes; Graeme C. Black; Andrew R. Webster; Alison J. Hardcastle; UKIRDC; Vincent Plagnol
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.
Contact: n.pontikos@ucl.ac.uk
Supplementary information: Supplementary data are available at Bioinformatics online.
DOI: https://doi.org/10.1093/bioinformatics/btx147
Metrics:
Canned Analyses generated by the tool
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Datasets analyzed by the tool
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