BioinformaticsBioinformaticsPeer-reviewed journal article
Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data
Nikolas PontikosiD, Jing YuiD, Ismail MoghuliD, Lucy Withington, Fiona Blanco‐KellyiD, Tom Vulliamy, Tsz Lun Ernest WongiD, Cian MurphyiD, Valentina CiprianiiD, Alessia FiorentinoiD, Gavin ArnoiD, Daniel J. GreeneiD, Julius O.B. JacobseniD, Tristan Clark, David S Gregory, Andrea Hilary NemethiD, Stephanie HalfordiD, Chris F. InglehearniD, Susan M. DownesiD, Graeme Charles M. BlackiD, Andrew R. WebsteriD, Alison J. HardcastleiD, UKIRDC, Vincent PlagnoliD
Abstract
SummaryPhenopolis is an open-source web server which provides an intuitive interface to genetic and phenotypic databases. It integrates analysis tools which include variant filtering and gene prioritisation 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 disease.\n\nAvailability and ImplementationA demo of the website is available at http://phenopolis.github.io (username: demo, password: demo123). If you wish to install a local copy, souce code and installation instruction are available at https://github.com/pontikos/phenopolis. The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts.\n\nContactn.pontikos@ucl.ac.uk\n\nSupplementary informationhttp://phenopolis.github.io
- assay: whole-genome sequencing
- research focus: database / resource
- research focus: variant calling
- research focus: gene regulatory network inference
- approach: statistical model
- Citations
- 52
- FWCI
- 5.61
- Field percentile
- top 4%
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