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Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease

Now that the laboratory mouse genome is sequenced and the annotation of its gene content is improving, the next major challenge is the annotation of the phenotypic associations of mouse genes. This requires the development of systematic phenotyping pipelines that use standardized phenotyping procedu...

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Autores principales: Hancock, John M., Mallon, Ann-Marie, Beck, Tim, Gkoutos, Georgios V., Mungall, Chris, Schofield, Paul N.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759022/
https://www.ncbi.nlm.nih.gov/pubmed/19649761
http://dx.doi.org/10.1007/s00335-009-9208-3
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author Hancock, John M.
Mallon, Ann-Marie
Beck, Tim
Gkoutos, Georgios V.
Mungall, Chris
Schofield, Paul N.
author_facet Hancock, John M.
Mallon, Ann-Marie
Beck, Tim
Gkoutos, Georgios V.
Mungall, Chris
Schofield, Paul N.
author_sort Hancock, John M.
collection PubMed
description Now that the laboratory mouse genome is sequenced and the annotation of its gene content is improving, the next major challenge is the annotation of the phenotypic associations of mouse genes. This requires the development of systematic phenotyping pipelines that use standardized phenotyping procedures which allow comparison across laboratories. It also requires the development of a sophisticated informatics infrastructure for the description and interchange of phenotype data. Here we focus on the current state of the art in the description of data produced by systematic phenotyping approaches using ontologies, in particular, the EQ (Entity-Quality) approach, and what developments are required to facilitate the linking of phenotypic descriptions of mutant mice to human diseases.
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spelling pubmed-27590222009-10-09 Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease Hancock, John M. Mallon, Ann-Marie Beck, Tim Gkoutos, Georgios V. Mungall, Chris Schofield, Paul N. Mamm Genome Article Now that the laboratory mouse genome is sequenced and the annotation of its gene content is improving, the next major challenge is the annotation of the phenotypic associations of mouse genes. This requires the development of systematic phenotyping pipelines that use standardized phenotyping procedures which allow comparison across laboratories. It also requires the development of a sophisticated informatics infrastructure for the description and interchange of phenotype data. Here we focus on the current state of the art in the description of data produced by systematic phenotyping approaches using ontologies, in particular, the EQ (Entity-Quality) approach, and what developments are required to facilitate the linking of phenotypic descriptions of mutant mice to human diseases. Springer-Verlag 2009-08-02 2009-08 /pmc/articles/PMC2759022/ /pubmed/19649761 http://dx.doi.org/10.1007/s00335-009-9208-3 Text en © The Author(s) 2009
spellingShingle Article
Hancock, John M.
Mallon, Ann-Marie
Beck, Tim
Gkoutos, Georgios V.
Mungall, Chris
Schofield, Paul N.
Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
title Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
title_full Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
title_fullStr Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
title_full_unstemmed Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
title_short Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
title_sort mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759022/
https://www.ncbi.nlm.nih.gov/pubmed/19649761
http://dx.doi.org/10.1007/s00335-009-9208-3
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