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Using Annotation to Drive Ontology Development

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Middle of November: Decided to focus on genes having to do with blood pressure regulation We had three terms in the ontology To describe blood pressure regulation

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Page 1: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Using Annotation to Drive Ontology Development

Page 2: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Comprehensive Annotation can Drive Ontology Development

Blood Pressure RegulationReal-world Example

Page 3: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Middle of November: Decided to focus on genes having to do with blood

pressure regulation

We had three terms in the ontologyTo describe blood pressure

regulation

Page 4: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Next step-READ!

Used a standardmedical textbookto learn about the

physiology of blood pressure

Page 5: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

December 1, 2005

Propose a basic structure in a SourceForge item

Page 6: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

December 1-19,2005

Lots of DiscussionConsult outside experts.

Page 7: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

December 19, 2005

Added 43 new terms

Harold adds the new termsAnd relationships to

The “live” GO.

Page 8: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

December 20, 2005-, 2006Read Papers and Annotate Genes!

December 22, 2005- five new termsDecember 23, 2005- two new synonyms,

two new termsDecember 27, 2005- six new termsDecember 28, 2005- three new termsFebruary 27, 2006- seven new GO terms

Not all of these were about blood-pressure regulation, some of themwere needed to annotate genes that are involved in other processes

Page 9: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Annotating Papers Results In

Improvement in parts of the GO outside the area of focus– If the original first pass was good, most of

these are new leaf nodesMore genes than the initial set that have to

do with the process of interest.Annotations of genes to processes other

than the one of primary interest

Page 10: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Steps in Comprehensive Annotation

Identify papers

Read papers

Modify GOCurate papers

A BC

DE

Page 11: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Where are we now?The Good News

On December 1st-– 14 genes annotated to blood pressure regulation– 65 annotations to those genes

Two weeks ago– 23 genes annotated to blood pressure regulation– 264 annotations to those genes– 5 genes have all literature annotated

Other genes get annotated as papers get annotatedNot all annotations have to do with blood pressure!

Page 12: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Where are we now?The Bad News

There is still an outstanding Sourceforge

Item about the terms in this part of the graph

Page 13: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

WHAT HAPPENED?

I short-circuited the process!

Page 14: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Steps in Comprehensive Annotation

Identify papers

Read papers

Modify GOCurate papers

A BC

DE

X

X

Page 15: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Why was the process short-circuitedThe ontology issues outstanding are

relatively minorI could still annotate papers as the

ontology stoodI felt that my time could now be spent on

annotations-I switched my primary role from an ontology developer to an annotator.

Page 16: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

How can we prevent short Circuits?Clearly there has to be an assignment of

responsibility for the ontology development– The responsibility begins with expert curators

representing the biology– The responsibility continues with ontology developers

who must point out major logical issues• Major logical issues should be dealt with by expert curators

– Minor issues should be then addressed as concrete proposals by ontology developers

• Minor issues are either accepted or rejected by curators– Final decisions are made based on whether the

ontology represents the biology

Page 17: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

A Proposal

Given that we plan to go the route of reference genome annotation, let’s try an experiment

Page 18: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Neurobiology Interest Group Meeting: June 14-15,2006

Focus on Central Nervous System Development

Page 19: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Identify Reviews That Will Serve as the First Step of Ontology Development

Page 20: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Use Reviews to Create the First Pass

Page 21: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Triage the Literature in the Reviews

This review cites 291 references!

Page 22: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

What does triage mean?

Identify papers that are of useIdentify reference-genome organisms that

are studied in those papersIdentify genes that are in those papers

Page 23: Using Annotation to Drive Ontology Development. Comprehensive Annotation can Drive Ontology Development Blood Pressure Regulation Real-world Example

Assign Papers to Curation Team MembersCurators are responsible for fully curating papers

that are assigned to themCurators are responsible for adding to/modifying

the ontology as necessaryTrack progress of genes, annotations and termsCurators are then responsible for assessing the

completeness of gene annotation in their MOD.