Search Results - "Eppig, Janan T."
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Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data
Published in Mammalian genome (01-10-2012)“…The Mammalian Phenotype Ontology (MP) is a structured vocabulary for describing mammalian phenotypes and serves as a critical tool for efficient annotation and…”
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease
Published in Nature (London) (28-05-2015)“…A forward genetic screen in fetal mice to identify genes involved in congenital heart disease (CHD) reveals that a large proportion of genes associated with…”
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Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse
Published in Nucleic acids research (04-01-2017)“…The Mouse Genome Database (MGD: http://www.informatics.jax.org) is the primary community data resource for the laboratory mouse. It provides a highly…”
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The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse
Published in Nucleic acids research (01-01-2014)“…The Mouse Genome Database (MGD) (http://www.informatics.jax.org) is the community model organism database resource for the laboratory mouse, a premier animal…”
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Published in Nucleic acids research (01-01-2014)“…The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of…”
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The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease
Published in Nucleic acids research (28-01-2015)“…The Mouse Genome Database (MGD, http://www.informatics.jax.org) serves the international biomedical research community as the central resource for integrated…”
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The mammalian phenotype ontology: enabling robust annotation and comparative analysis
Published in Wiley interdisciplinary reviews. Systems biology and medicine (01-11-2009)“…The mouse has long been an important model for the study of human genetic disease. Through the application of genetic engineering and mutagenesis techniques,…”
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Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse
Published in ILAR journal (01-07-2017)Get full text
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Disease Ontology: improving and unifying disease annotations across species
Published in Disease models & mechanisms (01-03-2018)“…Model organisms are vital to uncovering the mechanisms of human disease and developing new therapeutic tools. Researchers collecting and integrating relevant…”
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The International Mouse Strain Resource (IMSR): cataloging worldwide mouse and ES cell line resources
Published in Mammalian genome (01-10-2015)“…The availability of and access to quality genetically defined, health-status known mouse resources is critical for biomedical research. By ensuring that mice…”
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Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens
Published in Journal of biomedical semantics (25-03-2015)“…A vast array of data is about to emerge from the large scale high-throughput mouse knockout phenotyping projects worldwide. It is critical that this…”
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Beyond knockouts: cre resources for conditional mutagenesis
Published in Mammalian genome (01-10-2012)“…With the effort of the International Phenotyping Consortium to produce thousands of strains with conditional potential gathering steam, there is growing…”
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Gene Ontology: tool for the unification of biology
Published in Nature genetics (01-05-2000)“…Genomic sequencing has made it clear that a large fraction of the genes specifying the core biological functions are shared by all eukaryotes. Knowledge of the…”
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Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse
Published in ILAR journal (01-07-2017)“…Abstract The Mouse Genome Informatics (MGI) Resource supports basic, translational, and computational research by providing high-quality, integrated data on…”
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Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis
Published in Mammalian genome (01-08-2015)Get full text
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Mouse Genome Database: From sequence to phenotypes and disease models
Published in Genesis (New York, N.Y. : 2000) (01-08-2015)“…Summary The Mouse Genome Database (MGD, www.informatics.jax.org) is the international scientific database for genetic, genomic, and biological data on the…”
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Towards BioDBcore: a community-defined information specification for biological databases
Published in Nucleic acids research (01-01-2011)“…The present article proposes the adoption of a community-defined, uniform, generic description of the core attributes of biological databases, BioDBCore. The…”
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Inferring gene-to-phenotype and gene-to-disease relationships at Mouse Genome Informatics: challenges and solutions
Published in Journal of biomedical semantics (20-05-2016)“…Background Inferring gene-to-phenotype and gene-to-human disease model relationships from annotated mouse phenotypes and disease associations is critical when…”
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Mouse Genome Informatics (MGI): Resources for Mining Mouse Genetic, Genomic, and Biological Data in Support of Primary and Translational Research
Published in Methods in molecular biology (Clifton, N.J.) (2017)“…The Mouse Genome Informatics (MGI), resource ( www.informatics.jax.org ) has existed for over 25 years, and over this time its data content, informatics…”
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Supporting conditional mouse mutagenesis with a comprehensive cre characterization resource
Published in Nature communications (20-11-2012)“…Full realization of the value of the loxP -flanked alleles generated by the International Knockout Mouse Consortium will require a large set of…”
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