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PMID: 25825651 Published · epublish English Journal Article

Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens.

Journal of biomedical semantics ·Vol. 6 ·2015-00-00 ·Pages 11

Smith CL, Eppig JT

Abstract

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 information is captured in a standardized manner, made accessible, and is fully integrated with other phenotype data sets for comprehensive querying and analysis across all phenotype data types. The volume of data generated by the high-throughput phenotyping screens is expected to grow exponentially, thus, automated methods and standards to exchange phenotype data are required. The IMPC (International Mouse Phenotyping Consortium) is using the Mammalian Phenotype (MP) ontology in the automated annotation of phenodeviant data from high throughput phenotyping screens. 287 new term additions with additional hierarchy revisions were made in multiple branches of the MP ontology to accurately describe the results generated by these high throughput screens. Because these large scale phenotyping data sets will be reported using the MP as the common data standard for annotation and data exchange, automated importation of these data to MGI (Mouse Genome Informatics) and other resources is possible without curatorial effort. Maximum biomedical value of these mutant mice will come from integrating primary high-throughput phenotyping data with secondary, comprehensive phenotypic analyses combined with published phenotype details on these and related mutants at MGI and other resources.

Keywords
Data integration Database Mouse Ontology Phenotype
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Smith Cynthia L
Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, ME 04609 USA.
Eppig Janan T
Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, ME 04609 USA.
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Article Info
Journal
Journal of biomedical semantics
Abbr.
J Biomed Semantics
ISSN
2041-1480
Published
2015-00-00
Epub
2015-00-25
Pages
11
Language
English
Region
England
NLM ID
101531992
PMCID
PMC4378007
Grants
NCI NIH HHS · P30 CA034196 · United States
NHGRI NIH HHS · U41 HG000330 · United States
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