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

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Abstract

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.

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