title: PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
abstract: The ultimate goal of studying model organisms is to translate what is learned into useful knowledge about normal human biology and disease to facilitate treatment and early screening for diseases. Recent advances in genomic technologies allow for rapid generation of models with a range of targeted genotypes as well as their characterization by high-throughput phenotyping. As an abundance of phenotype data become available, only systematic analysis will facilitate valid conclusions to be drawn from these data and transferred to human diseases. Owing to the volume of data, automated methods are preferable, allowing for a reliable analysis of the data and providing evidence about possible gene-disease associations. Here, we propose Phenotype comparisons for DIsease Genes and Models (PhenoDigm), as an automated method to provide evidence about gene-disease associations by analysing phenotype information. PhenoDigm integrates data from a variety of model organisms and, at the same time, uses several intermediate scoring methods to identify only strongly data-supported gene candidates for human genetic diseases. We show results of an automated evaluation as well as selected manually assessed examples that support the validity of PhenoDigm. Furthermore, we provide guidance on how to browse the data with PhenoDigm's web interface and illustrate its usefulness in supporting research. Database URL: http://www.sanger.ac.uk/resources/databases/phenodigm
authors: Mouse Informatics Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. ds5@sanger.ac.uk
authors: Damian
authors: D
authors: Smedley
authors: Anika
authors: A
authors: Oellrich
authors: Sebastian
authors: S
authors: Köhler
authors: Barbara
authors: B
authors: Ruef
authors: Monte
authors: M
authors: Westerfield
authors: Peter
authors: P
authors: Robinson
authors: Suzanna
authors: S
authors: Lewis
authors: Christopher
authors: C
authors: Mungall
mesh_terms: D000818:Animals; D057225:Data Mining / Q000379:methods*; D030541:Databases, Genetic; D004194:Disease / Q000235:genetics*; D004195:Disease Models, Animal; D056726:Genetic Association Studies; D006801:Humans; D020407:Internet; D051379:Mice; D058977:Molecular Sequence Annotation / Q000379:methods*; D010641:Phenotype; D012372:ROC Curve; D012660:Semantics; D012984:Software; D014584:User-Computer Interface
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