Using Ontologies to Annotate Phenotypic Data Janan T. Eppig December 2008 Mouse Genome Informatics.
The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)
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Transcript of The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)
![Page 1: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/1.jpg)
Module 3: The Human-Mouse: Disease Connection in MGI
![Page 2: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/2.jpg)
Clinical genetic research and translation tool
![Page 3: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/3.jpg)
![Page 4: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/4.jpg)
Options for beginning a search:
Gja8Mapk10Rsph9Il20raJak3Frg1
![Page 5: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/5.jpg)
Visual display of associated phenotype and disease results
Mammalian (mouse) Phenotypes
Human disease(OMIM)
![Page 6: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/6.jpg)
Click to drill-down for more precise MP and allele IDs
![Page 7: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/7.jpg)
Click right side to view disease
![Page 8: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/8.jpg)
Visual display of associated phenotype and disease results
![Page 9: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/9.jpg)
Other tabs for Genes & Diseases lists (downloadable)
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Genes tab: downloadable, find references and mouse models
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Diseases tab: downloadable, find all gene associations in human and mouse
![Page 12: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/12.jpg)
Search terms can be combined
Chr1:150000000-250000000
.
type “cleft palate” (matches whole) or
type cleft palate (matches as two terms)
or selectcleft palate Mammalian phenotype
or selectCleft Palate; CP [Cleft palate isolated, CPI] OMIM
![Page 13: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/13.jpg)
Combined search results for region AND annotation
at least one mouse homolog genotype contains “cleft palate” (or child term) as an MP annotation
same MP genotype is a disease model, or human disease name/synonym contains “cleft palate”
![Page 14: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.fdocuments.in/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/14.jpg)
Summary
The Human-Mouse: Disease connection allows rapid accession and association of gene-phenotype or gene-disease information
Allows clinical researchers with human data to perform functional or phenotypic annotation to a gene list
Straightforward discovery of mouse models
contact [email protected] with any questions