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From Genotype to Phenotype Future Perspectives on Data and Service Integration Pedro Lopes | [email protected] | PDEI - TAEI Bioinformatics | Jan 16, 2009 Friday, January 16, 2009

From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

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Page 1: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

From Genotype to PhenotypeFuture Perspectives on Data and Service Integration

Pedro Lopes | [email protected] | PDEI - TAEI Bioinformatics | Jan 16, 2009

Friday, January 16, 2009

Page 2: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Outline

• Past• Introduction

• Present• GEN2PHEN• Problems

• Future• Solutions• Ideas

• Conclusion

Friday, January 16, 2009

Page 3: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

The beginning Atomic Bomb over Hiroshima

Friday, January 16, 2009

Page 4: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

The beginning Atomic Bomb over Hiroshima

Friday, January 16, 2009

Page 5: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Introduction

•Nuclear radiation causes mutations• Leveraged first studies on mutation impact in health

•Human Genome Project - HGP• First worlwide genomic project• Decode the human genome

•Human Variome Project - HVP• After HGP• Decode variation effects

•Genotype to Phenotype Databases: A Holistic Solution• 7th European Framework Program

Friday, January 16, 2009

Page 6: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

GEN2PHEN

•Key goals• Analyze genotype to phenotype field and investigate needs and

practices• Develop standards for the genotype to phenotype field• Create generic database components, services and integration

infrastructures• Create data search and presentation solutions for GEN2PHEN

knowledge• Facilitate research and diagnostic GEN2PHEN databases

population• Build major GEN2PHEN Internet portal• Deploy solutions to the community

Friday, January 16, 2009

Page 7: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

GEN2PHEN

•Key goals• Analyze genotype to phenotype field and investigate needs and

practices• Develop standards for the genotype to phenotype field• Create generic database components, services and integration

infrastructures• Create data search and presentation solutions for GEN2PHEN

knowledge• Facilitate research and diagnostic GEN2PHEN databases

population• Build major GEN2PHEN Internet portal• Deploy solutions to the community

Next generation web applications integrating heterogeneous information in a unifying

state-of-the-art user interface

Friday, January 16, 2009

Page 8: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Problems

•How to integrate heterogeneous data?•How to orchestrate distinct services?•How to correctly map concepts?•How to distribute processing?•How to facilitate machine-machine communication?•How to automize data exchanges?

Friday, January 16, 2009

Page 9: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Solutions

•Meta Applications• Workflows• Mashups• Web Semantics• Web Desktops• Visualization Interfaces

•Why Meta?• Use existing apps• Integrate data / services

•Goals• Improve

• User satisfaction• User control• Information integration

• Enhance• App design• Custom apps

Friday, January 16, 2009

Page 10: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Workflows

•What?• Sequence of tasks• Information flows

•How?• Input/output mapping

•Where?• Yahoo! Pipes• Taverna• geDynamicFlow

Friday, January 16, 2009

Page 11: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Workflows

•What?• Sequence of tasks• Information flows

•How?• Input/output mapping

•Where?• Yahoo! Pipes• Taverna• geDynamicFlow

Friday, January 16, 2009

Page 12: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Workflows

•What?• Sequence of tasks• Information flows

•How?• Input/output mapping

•Where?• Yahoo! Pipes• Taverna• geDynamicFlow

Friday, January 16, 2009

Page 13: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Mashups

•What?• Apps as gadgets• Customizable UI

•How?• Relations among

gadgets• Information sharing

•Where• iGoogle• Netvibes

Friday, January 16, 2009

Page 14: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Mashups

•What?• Apps as gadgets• Customizable UI

•How?• Relations among

gadgets• Information sharing

•Where• iGoogle• Netvibes

Friday, January 16, 2009

Page 15: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Web Semantics

•What?• Ontologies• Resource Description• Data exchange

•How?• XML descriptions• SPARQL queries

•Where?• DBPedia• Nextbio

Friday, January 16, 2009

Page 16: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Web Semantics

•What?• Ontologies• Resource Description• Data exchange

•How?• XML descriptions• SPARQL queries

•Where?• DBPedia• Nextbio

Friday, January 16, 2009

Page 17: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Web Desktops

•What?• Desktops in the browser

•How?• Desktop interface• Traditional metaphors

•Where?• eyeOS• g.ho.st

Friday, January 16, 2009

Page 18: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Web Desktops

•What?• Desktops in the browser

•How?• Desktop interface• Traditional metaphors

•Where?• eyeOS• g.ho.st

Friday, January 16, 2009

Page 19: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Visualizations

•What?• New visualizations• More appealing results

•How?• UI technologies: AJAX,

Flash, Silverlight

•Where?• Viewzi• Searchme

Friday, January 16, 2009

Page 20: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Visualizations

•What?• New visualizations• More appealing results

•How?• UI technologies: AJAX,

Flash, Silverlight

•Where?• Viewzi• Searchme

Friday, January 16, 2009

Page 21: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

In Bioinformatics... Future applications

Friday, January 16, 2009

Page 22: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

In Bioinformatics... Future applications

Friday, January 16, 2009

Page 23: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

In Bioinformatics... Future applications

Friday, January 16, 2009

Page 24: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

In Bioinformatics... Future applications

Friday, January 16, 2009

Page 25: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Conclusions

•Bioinformatics problems may be solved using generic web solutions

•There is no solution from heaven• (Fully autonomous and dynamic) Integration is “complicated”•A lot can be learned from Web2.0...

Friday, January 16, 2009

Page 26: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Conclusions

•Bioinformatics problems may be solved using generic web solutions

•There is no solution from heaven• (Fully autonomous and dynamic) Integration is “complicated”•A lot can be learned from Web2.0...... and Web3.0 is right around the corner!

Friday, January 16, 2009

Page 27: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Conclusions

•Bioinformatics problems may be solved using generic web solutions

•There is no solution from heaven• (Fully autonomous and dynamic) Integration is “complicated”•A lot can be learned from Web2.0...Now it’s up to YOU!

Friday, January 16, 2009

Page 28: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Questions?

Friday, January 16, 2009

Page 29: From Genotype to Phenotype - Future Perspectives on Data and Service Integration (Keynote)

Thank You

Friday, January 16, 2009