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 O B Jacobsen, Tristan Clark, David S. Gregory, Andrea M. Nemeth, Stephanie Halford, Chris F Inglehearn, Susan Downes, Graeme C. BlackAndrew R Webster, Alison J Hardcastle, Vincent Plagnol, Manir Ali, Martin McKibbin, James A. Poulter, Kamron Khan, Emma Lord, Stefano Lise, Michel Michaelides, Michael E. Cheetham, Veronica Van Heyningen,

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2421-2423
Number of pages3
JournalBioinformatics
Volume33
Issue number15
Early online date15 Mar 2017
DOIs
Publication statusPublished - 1 Aug 2017

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