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Mouse Genome Informatics Summary, 2010



Judith Blake*

Alexander Diehl*

Harold J Drabkin*

David Hill*

Li Ni

Dmitry Sitnikov

Mary Dolan*

  • Funded entirely or partially by GO

Annotation Progress

We continue to put emphasis on those genes selected for the Reference Genome Project. Additional emphasis has been placed on certain genes associated with lung development.

MGI GO STATS as of December, 2009

Annotation Type 09_Dec_08 09_Dec_09 Change % Change
Total Genes annotated (with at least one GO term of any kind):
Total Manual Annotation
Number of Genes
IEA Annotation
SwissProt to GO
Interpro to GO
EC to GO
* 62% of current gene models

Methods and strategies for annotation

Literature curation:

Literature curation continues to be the major focus of our annotation efforts. We continue to explore natural language processing tools to aid in identifying papers that are primarily focused on aspects of lung development, with the aid of Karen Dowell.

Computational annotation strategies:

As always current strategies involve use of translation table to mine SwissProt Keywords and InterPro domains for IEA annotation. These are performed automatically on a nightly basis and require little human intervention.

Priorities for annotation

  1. Genes assigned by Reference Genome Project (everyone)
  2. Isoform curation (Harold, Protein Ontology project); now co-ordinating with 1 by focusing on reference genes that have isoforms.
  3. Genes with no GO annotation but with literature (Li and Dmitry)
  4. Genes with only IEA annotation but with literature (Li)
  5. Genes identified as being important in lung development (Dmitry)
  6. Genes marked as having GO annotation completed, but now having new literature (Dmitry)

Presentations and Publications

GO 2009 Publications, Tutorials & Workshops, Presentations, Posters, and Resources

A. Ontology Development Contributions:

1. David Hill has worked on a team with Tanya Berardini, Chris Mungall, Midori Harris, Jen Deegan and Jane Lomax to develop cross-products within and among the three GO namespaces. The fist set of these will be released mid/late January.

2. David Hill has worked with Chris Mungall and Tanya Berardini to introduce the first inter-ontology links in GO. These include regulates links between BP and MF and part_of links between MF and BP.

3. Dmitry Sitnikov and David Hill are extending the lung development branch of Biological Process to adequately annotate genes identified as being important in the development of lung cancers.

4. David Hill has expanded the development of the salivary gland, prostate gland, placenta and mammary gland in the in the BP ontology.

5. Approximately 150 terms were added to the BP ontology as a result of David Hill and Tanya Berardini attending the Society for Developmental Biology meeting.

6. Approximately 50 terms were added to the BP ontology as a result of David Hill attending the MR&D meeting.

7. Approximately 250 terms were added to the BP ontology as a result of David Hill, Tanya Berardini and Doug Howe attending the heart development meeting hosted by University College London.

8. Harold Drabkin and Alexander Diehl are active in the Signaling GO content development group.

9. Alexander Diehl is active in the Virus Term GO content development group.

10. Alexander Diehl continues to act as the GOC liaison to the Infectious Disease Ontology and Vaccine Ontology groups and to act on term requests for the GO from those groups.

11. Alexander Diehl and Chris Mungall are leading a project to revise the Cell Ontology and increase its utility as a source for cell type-specific GO terms and in co-annotation with GO terms. This project is funded by an ARRA Competitive Revision to the main GO Consortium grant; funding began on September 30, 2009. Terrence Meehan at MGI was recruited to work as a full time curator on the Cell Ontology under the direction of Alexander Diehl. Our first large project on the CL is developing the hematopoietic cell type terms into a full logical-definition/cross product format.

12. Alexander Diehl and Judith Blake recently co-mentored Morgan V. Hightshoe, a member of the 2009 Jackson Laboratory Summer Studen.t Program, in a project to revise the representation of nervous system cell types in the Cells Ontology. This work is being continued by a high school intern, Wade Valleau, as part of our larger work on the cell ontology.

13. David Hill and Midori Harris continue to oversee the biological content development of GO. In particular, all new developmental biology-related terms submitted to SourceForge are handled by David Hill and all new 'regulation' terms are handled by David Hill and Tanya Berardini.

14. David Hill met with Chris Mungall, Tanya Berardini and Ben Hitz to work out a release pipeline of different ontology file formats.

Annotation Outreach and User Advocacy Efforts:

  • The Protein Ontology project is providing a web interface (http/ whereby functional annotation using the GO can be applied to PRO submissions. These are reviewed by Cecilia Arighi of Georgetown. At present, only the PRO curators (Georgetown and MGI) are using the tool, but it is available to anyone.
  • David Hill continues to serve on the GO-help rota.

Other Highlights:

We are now suppling a GAF 2.0 format file to GOC with column 17 isoform data filled in. This file is also available directly from our own FTP site. Column 16 fill in, starting with specifying cell type will be implemented shortly.

Alexander Diehl co-wrote an ARRA Competitive Revision extension to the Gene Ontology Consortium grant HG000273, along with Chris Mungall and Judith Blake for the purpose of revising the Cell Ontology, and using the CL in conjunction with the GO in annotation and in cross-product term formation. This grant was funded on September 30, 2009.

Dmitry Sitnikov continues collaboration with Larry Hunter's group (Dr. Mike Bada) to establish a large, high-quality, corpora of full-text publications, expertly annotated with expressive knowledge representations, to improve the performance of a wide variety of biochemical text mining systems and to create new approaches to text mining. This involves systematically training and evaluating a broad sample of information extraction methods for key tasks, including concept and relationship identification. This effort can also be useful in synonym improvements to the GO between GO terms and certain biological concepts and terminology used in the literature. So far, more then 80 artictles of the chosen 98 have been annotated for molecular function and process. Additionally, Dmitry is working to improve the usefulless of MGI internal GO QC reports.

As the designated coordinator of the MGI/GO project with the GO Reference Genome project, Li Ni participates in annotations of genes assigned by the Reference Genome Project, maintain the mouse Reference Genome list on MGI GO wiki and Google spreadsheet, maintain the Reference Genome status table on GO wiki, oversees the curation of Reference Genome Genes for the mouse group.

Mary Dolan has been involved in a collaboration with Carol Bult at MGI on aligning gene ontology annotations for mouse genes assigned to MouseCyc pathways. See