Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Author:

Pontikos Nikolas123,Yu Jing4,Moghul Ismail5,Withington Lucy6,Blanco-Kelly Fiona23,Vulliamy Tom7,Wong Tsz Lun Ernest7,Murphy Cian18,Cipriani Valentina123,Fiorentino Alessia2,Arno Gavin23,Greene Daniel910,Jacobsen Julius OB11,Clark Tristan12,Gregory David S12,Nemeth Andrea M4,Halford Stephanie13,Inglehearn Chris F14,Downes Susan15,Black Graeme C16,Webster Andrew R23,Hardcastle Alison J2,Plagnol Vincent1,

Affiliation:

1. UCL Genetics Institute, University College London, London, UK

2. Institute of Ophthalmology, University College London, London, UK

3. Moorfields Eye Hospital, London, UK

4. Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK

5. UCL Cancer Institute, University College London, London, UK

6. RP Fighting Blindness, PO Box 350, Buckingham, UK

7. Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK

8. Warwick Medical School, The University of Warwick, Coventry, UK

9. Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK

10. Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK

11. Barts and The London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, John Vane Building, Charterhouse Square, London, UK

12. Computer Science Department, University College London, London, UK

13. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK

14. Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James’s University Hospital, Leeds, UK

15. Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK

16. Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

Reference12 articles.

1. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement;El-Asrag;Am. J. Hum. Genet,2015

2. PhenoTips: patient phenotyping software for clinical and research use;Girdea;Hum. Mut,2013

3. Phenotype similarity regression for identifying the genetic determinants of rare diseases;Greene;Am. J. Hum. Genet,2016

4. Online Mendelian Inheritance in Man (OMIM), a Knowledgebase of Human Genes and Genetic Disorders;Hamosh;Nucleic Acids Res,2005

5. The human phenotype ontology project: linking molecular biology and disease through phenotype data;Köhler;Nucleic Acids Res,2014

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