Integrating phenotype ontologies with PhenomeNET

Author:

Rodríguez-García Miguel Ángel,Gkoutos Georgios V.,Schofield Paul N.,Hoehndorf RobertORCID

Funder

National Science Foundation

Biotechnology and Biological Sciences Research Council

H2020 European Research Council

King Abdullah University of Science and Technology

Publisher

Springer Science and Business Media LLC

Subject

Computer Networks and Communications,Health Informatics,Computer Science Applications,Information Systems

Reference62 articles.

1. Schofield PN, Hoehndorf R, Gkoutos GV. Mouse genetic and phenotypic resources for human genetics. Hum Mutat. 2012; 33(5):826–36.

2. Hoehndorf R, Schofield PN, Gkoutos GV. The role of ontologies in biological and biomedical research: a functional perspective. Brief Bioinform. 2011. doi: 10.1093/bib/bbv011 . http://bib.oxfordjournals.org/content/early/2015/04/10/bib.bbv011.full.pdf+html .

3. Hoehndorf R, Schofield PN, Gkoutos GV. Phenomenet: a whole-phenome approach to disease gene discovery. Nucleic Acids Res. 2011; 39(18):119.

4. Gkoutos GV, Green EC, Mallon A-MM, Hancock JM, Davidson D. Using ontologies to describe mouse phenotypes. Genome Biol. 2005; 6(1):5. doi: 10.1186/gb-2004-6-1-r8 .

5. Hoehndorf R, Schofield PN, Gkoutos GV. An integrative, translational approach to understanding rare and orphan genetically based diseases. Interface Focus. 2013; 3(2):20120055. doi: 10.1098/rsfs.2012.0055 .

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