UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147.
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.
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.
Supplementary data are available at Bioinformatics online.
Phenopolis 是一个开源的 Web 服务器,为遗传和表型数据库提供了直观的界面。它集成了基于表型的变体过滤和基因优先级分析工具。Phenopolis 平台将加速临床诊断、基因发现,并鼓励在罕见遗传疾病研究中更广泛地采用人类表型本体。
网站的演示版可在 https://phenopolis.github.io 上获得。如果您希望安装本地副本,源代码和安装说明可在 https://github.com/phenopolis 上获得。该软件使用 Python、MongoDB、HTML/JavaScript 和各种 bash shell 脚本实现。
补充数据可在Bioinformatics 在线获得。