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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
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.
  • Pontikos N; UCL Genetics Institute, University College London, London WC1E 6BT, UK.
  • Yu J; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Moghul I; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Withington L; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
  • Blanco-Kelly F; UCL Cancer Institute, University College London, London WC1E 6DD, UK.
  • Vulliamy T; RP Fighting Blindness, PO Box 350, Buckingham, MK18 1GZ, UK.
  • Wong TLE; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Murphy C; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Cipriani V; Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AT, UK.
  • Fiorentino A; Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AT, UK.
  • Arno G; UCL Genetics Institute, University College London, London WC1E 6BT, UK.
  • Greene D; Warwick Medical School, The University of Warwick, Coventry CV4 7AL, UK.
  • Jacobsen JOB; UCL Genetics Institute, University College London, London WC1E 6BT, UK.
  • Clark T; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Gregory DS; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Nemeth AM; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Halford S; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Inglehearn CF; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Downes S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.
  • Black GC; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.
  • Webster AR; Barts and The London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, John Vane Building, Charterhouse Square, London EC1M 6BQ, UK.
  • Hardcastle AJ; Computer Science Department, University College London, London WC1E 6BT, UK.
  • Plagnol V; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Bioinformatics ; 33(15): 2421-2423, 2017 Aug 01.
Article en En | MEDLINE | ID: mdl-28334266
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. AVAILABILITY AND IMPLEMENTATION 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. CONTACT n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Programas Informáticos / Biología Computacional / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Programas Informáticos / Biología Computacional / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article