Phenopolis

Phenopolis is an open-source web server that provides an intuitive interface to genetic and phenotypic databases, with integrated analysis tools such as variant filtering and gene prioritization based on phenotype. It is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. The platform aims to accelerate clinical diagnosis, gene discovery, and encourage the adoption of the Human Phenotype Ontology in the study of rare genetic diseases.

Topic

Variant prioritisation;Enrichment analysis

Detail

  • Operation: -

  • Software interface: Command-line user inteface,Web application

  • Language: Python, JavaScript, Crystal, Java, C

  • License: MIT License, ISC License, GNU Affero General Public License v3.0

  • Cost: Free

  • Version name: -

  • Credit: UKIRDC, funded by R.P. Fighting Blindness and Fight for Sight.

  • Input: -

  • Output: -

  • Contact: Nikolas Pontikos n.pontikos@ucl.ac.uk

  • Collection: Phenopolis

  • Maturity: Stable

Publications

  • Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
  • Pontikos N, et al. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. 2017; 33:2421-2423. doi: 10.1093/bioinformatics/btx147
  • https://doi.org/10.1093/bioinformatics/btx147
  • PMID: 28334266
  • PMC: -

Download and documentation

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