Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics (Oxford, England) - 1 Aug 2017
Pontikos Nikolas, Yu Jing, Moghul Ismail, Withington Lucy, Blanco-Kelly Fiona, Vulliamy Tom, Wong Tsz Lun Ernest, Murphy Cian, Cipriani Valentina, Fiorentino Alessia, Arno Gavin, Greene Daniel, Jacobsen Julius O B, Clark Tristan, Gregory David S, Nemeth Andrea M, Halford Stephanie, Inglehearn Chris F, Downes Susan, Black Graeme C, Webster Andrew R, Hardcastle Alison J, Plagnol Vincent
Abstract excerpt
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...
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