Genome Biology

official impact factor 6.89

Open Access

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

Cynthia L Smith, Carroll-Ann W Goldsmith and Janan T Eppig*

Genome Biology 2004, 6:R7 doi:10.1186/gb-2004-6-1-r7

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BioMed Central: 24 citations

Proceedings   Open Access

Logical Gene Ontology Annotations (GOAL): exploring gene ontology annotations with OWL

Simon Jupp, Robert Stevens, Robert Hoehndorf Journal of Biomedical Semantics 2012, 3(Suppl 1):S3 (24 April 2012)

Short report   Open Access

Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features

Joseph D Buxbaum, Catalina Betancur, Ozlem Bozdagi, Nate P Dorr, Gregory A Elder, Patrick R Hof Molecular Autism 2012, 3:1 (20 February 2012)

Method   Open Access

Uberon, an integrative multi-species anatomy ontology

Christopher J Mungall, Carlo Torniai, Georgios V Gkoutos, Suzanna E Lewis, Melissa A Haendel Genome Biology 2012, 13:R5 (31 January 2012)

A description of the Uberon ontology tool that allows comparisons of genomic information across multiple animal phyla

Research article   Open Access Highly Accessed

Exact score distribution computation for ontological similarity searches

Marcel H Schulz, Sebastian Köhler, Sebastian Bauer, Peter N Robinson BMC Bioinformatics 2011, 12:441 (12 November 2011)

Software   Open Access Highly Accessed

Improving ontologies by automatic reasoning and evaluation of logical definitions

Sebastian Köhler, Sebastian Bauer, Chris J Mungall, Gabriele Carletti, Cynthia L Smith, Paul Schofield, Georgios V Gkoutos, Peter N Robinson BMC Bioinformatics 2011, 12:418 (27 October 2011)

Research   Open Access

GOMMA: a component-based infrastructure for managing and analyzing life science ontologies and their evolution

Toralf Kirsten, Anika Gross, Michael Hartung, Erhard Rahm Journal of Biomedical Semantics 2011, 2:6 (13 September 2011)

Technical Note   Open Access

OntoFox: web-based support for ontology reuse

Zuoshuang Xiang, Mélanie Courtot, Ryan R Brinkman, Alan Ruttenberg, Yongqun He BMC Research Notes 2010, 3:175 (22 June 2010)

OntoFox facilitates knowledge sharing by supporting extraction and reuse of user-defined subsets of terms from existing ontologies, enabling interoperability between projects through standardization of concepts and definitions.

Research article   Open Access

Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics

Michael Gruenberger, Rudi Alberts, Damian Smedley, Morris Swertz, Paul Schofield, Klaus Schughart BMC Research Notes 2010, 3:16 (22 January 2010)

This article is part of a collection on Databases

Method   Open Access Highly Accessed

Integrating phenotype ontologies across multiple species

Christopher J Mungall, Georgios V Gkoutos, Cynthia L Smith, Melissa A Haendel, Suzanna E Lewis, Michael Ashburner Genome Biology 2010, 11:R2 (8 January 2010)

A phenotypic ontology that can be used for the analysis of phenotype-genotype data across multiple species, paving the way for truly cross species translational research.

Review   Free Highly Accessed

Linking genes to diseases: it's all in the data

Nicki Tiffin, Miguel A Andrade-Navarro, Carolina Perez-Iratxeta Genome Med 2009, 1:77 (7 August 2009)

Computational approaches to disease-gene associations, especially those that use phenotype ontologies, can help to prioritize the most likely candidate genes.

Research   Open Access

Annotating the human genome with Disease Ontology

John D Osborne, Jared Flatow, Michelle Holko, Simon M Lin, Warren A Kibbe, Lihua Zhu, Maria I Danila, Gang Feng, Rex L Chisholm BMC Genomics 2009, 10(Suppl 1):S6 (7 July 2009)

Proceedings   Open Access

Open Biomedical Ontology-based Medline exploration

Weijian Xuan, Manhong Dai, Barbara Mirel, Jean Song, Brian Athey, Stanley J Watson, Fan Meng BMC Bioinformatics 2009, 10(Suppl 5):S6 (6 May 2009)

Proceedings   Open Access

Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data

Tim Beck, Hugh Morgan, Andrew Blake, Sara Wells, John M Hancock, Ann-Marie Mallon BMC Bioinformatics 2009, 10(Suppl 5):S2 (6 May 2009)

Proceedings   Open Access

PhenoGO: an integrated resource for the multiscale mining of clinical and biological data

Lee T Sam, Eneida A Mendonça, Jianrong Li, Judith Blake, Carol Friedman, Yves A Lussier BMC Bioinformatics 2009, 10(Suppl 2):S8 (5 February 2009)

Research article   Open Access

Information-based methods for predicting gene function from systematic gene knock-downs

Matthew T Weirauch, Christopher K Wong, Alexandra B Byrne, Joshua M Stuart BMC Bioinformatics 2008, 9:463 (29 October 2008)

Research   Open Access

An en masse phenotype and function prediction system for Mus musculus

Murat Taşan, Weidong Tian, David P Hill, Francis D Gibbons, Judith A Blake, Frederick P Roth Genome Biology 2008, 9(Suppl 1):S8 (27 June 2008)

Research article   Open Access

Improved human disease candidate gene prioritization using mouse phenotype

Jing Chen, Huan Xu, Bruce J Aronow, Anil G Jegga BMC Bioinformatics 2007, 8:392 (16 October 2007)

Methodology article   Open Access Highly Accessed

Representing default knowledge in biomedical ontologies: application to the integration of anatomy and phenotype ontologies

Robert Hoehndorf, Frank Loebe, Janet Kelso, Heinrich Herre BMC Bioinformatics 2007, 8:377 (9 October 2007)

The problem of interoperability of fixed anatomy ontologies with the more flexible phenotype ontologies can be solved by treating canonical information as the default that can be modified when more information is available.

Method   Open Access Highly Accessed

Celsius: a community resource for Affymetrix microarray data

Allen Day, Marc RJ Carlson, Jun Dong, Brian D O'Connor, Stanley F Nelson Genome Biology 2007, 8:R112 (14 June 2007)

Celsius is a new system that serves as a warehouse by aggregating Affymetrix files and associated metadata, and containing the largest publicly available source of Affymetrix microarray data.

Software   Open Access

MPHASYS: a mouse phenotype analysis system

R Calder, Rudolf B Beems, Harry van Steeg, I Mian, Paul HM Lohman, Jan Vijg BMC Bioinformatics 2007, 8:183 (6 June 2007)

Commentary   Open Access Highly Accessed

Requirements and ontology for a G protein-coupled receptor oligomerization knowledge base

Lucy Skrabanek, Marta Murcia, Michel Bouvier, Lakshmi Devi, Susan R George, Martin J Lohse, Graeme Milligan, Richard Neubig, Krzysztof Palczewski, Marc Parmentier, Jean-Philippe Pin, Gerrit Vriend, Jonathan A Javitch, Fabien Campagne, Marta Filizola BMC Bioinformatics 2007, 8:177 (30 May 2007)

Research   Open Access Highly Accessed

New genes in the evolution of the neural crest differentiation program

Juan-Ramon Martinez-Morales, Thorsten Henrich, Mirana Ramialison, Joachim Wittbrodt Genome Biology 2007, 8:R36 (12 March 2007)

The phylogenetic classification of genes that are ontologically associated with neural crest development reveals that neural crest evolution is associated with the emergence of new signalling peptides.

Software   Open Access Highly Accessed

The Adult Mouse Anatomical Dictionary: a tool for annotating and integrating data

Terry F Hayamizu, Mary Mangan, John P Corradi, James A Kadin, Martin Ringwald Genome Biology 2005, 6:R29 (15 February 2005)

This article is part of a collection on Ontologies

The Adult Mouse Anatomical Dictionary was developed to provide an ontology for standardized nomenclature for anatomical terms in the postnatal mouse. The ontology will be used to annotate and integrate different types of data pertinent to anatomy.

Method   Open Access

Using ontologies to describe mouse phenotypes

Georgios V Gkoutos, Eain CJ Green, Ann-Marie Mallon, John M Hancock, Duncan Davidson Genome Biology 2004, 6:R8 (20 December 2004)

This article is part of a collection on Ontologies

By combining ontologies from different sources the authors developed a novel approach to describing phenotypes of mutant mice in a standard, structured manner.