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- Title
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
- Authors
Pontikos, Nikolas; Jing Yu; 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.
- 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.
- Subjects
DATA harmonization; GENETIC databases; HUMAN phenotype; BIOLOGICAL databases; PYTHON programming language; GENETIC disorders
- Publication
Bioinformatics, 2017, Vol 33, Issue 15, p2421
- ISSN
1367-4803
- Publication type
Article
- DOI
10.1093/bioinformatics/btx147