The Mammalian Phenotype Ontology Development and Use in Phenotypic Data Annotation at Mouse Genome Informatics Cynthia L. Smith, Ph.D
Jan 13, 2016
The Mammalian Phenotype Ontology
Development and Use in Phenotypic Data
Annotation at Mouse Genome Informatics
Cynthia L. Smith, Ph.D
Mammalian Phenotype Ontology
• Over 7955 pre-composed terms
• OBO-Edit• OBO format• RGD, OMIA, Europhenome
• On-line tools PhenoGO, PhenomicDB, PhenoHM, MamPhEA etc
Total No. of Annotations 202263
Genotypes with MP 42574
Alleles Annotated 25938
Genes/Markers Annotated 8997
Mammalian Phenotype Ontology Development
• Curation-driven approach Terms are added as required by
curators (MGI, RGD and others) when annotations are made.
• Systematic reviewSections of the MP are subject to organization and content review, in conjunction with experts in the field.
• Comparisions to other ontologies
Building a mouse phenotyping data resource• Large scale ENU mutagenesis programs worldwide -
continuing
• Large scale gene trap programs (International Gene Trap Consortium) www.genetrap.org - gene trap cell lines loaded, with Lexicon
• International Mouse Knockout Consortium• KOMP – Knockout Mouse Project (USA) www.knockoutmouse.org• EUCOMM – European Conditional Mouse Mutagenesis www.eucomm.org • NorCOMM – North American Conditional Mouse Mutagenesis http://norcomm.phenogenomics.ca • Texas Institute for Genomic Medicine Knockouts www.tigm.org
• Collaborative Cross www.complextrait.org and the Diversity Outcross
• Literature and lab submissions
• New recombinase (cre, flp, etc) and reporter database is online and data is being populated www.creportal.org
Mammalian Phenotype-Current Status
9/08/2008
MP terms: 6185
MP Annotations in MGI:
Total No. of Annotations 128262
Genotypes with MP 25178
Alleles Annotated 18866/21693
Genes/Markers Annotated 8412
Collaborators/UsersRat Genome Database
Mouse Mutagenesis Centers Human (NCBI/dbSNP)
OMIA (Online Mendelian Inheritance in Animals)Proprietary Databases
International Mouse Knockout Projects
Making Mammalian Phenotype Ontology Work
DAGs
• accommodate bio-specific terms• computationally useful
• human friendly
• practical for curation
• cross-reference to other ontologies
Lightning talks (no more than 5 slides, 5 minutes):1. Who you are (ontology developer/contributor, ontology
consumer)?2. Why are you making or using ontologies or why do you want to
use ontologies? What are you doing with them?3. What tools are you using? A little nitty gritty here... obo-edit,
protege, excel,...4. Biggest roadblock in your work5. Vision: where you’d like to go...
6. Collaborators? Type of person or resource who could help?
I did initially mention some other groups such as RGD, OMIA and Europhenome, but the last sentence was running on too long. I was planning to put that in the 5 minute talk, though, along with
other on-line tools such as PhenoGO, PhenomicDB, PhenoHM, MamPhEA etc