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GEN2PHEN Knowledge Centre: an integrated portal for genotype‐to‐phenotype knowledge and data. GEN2PHEN Knowledge Centre: An integrated portal for genotype‐to‐phenotype knowledge and data. Adam Webb Department of Genetics, University of Leicester, UK. WWW.GEN2PHEN.ORG. Outline. - PowerPoint PPT Presentation
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Adam WebbDepartment of Genetics, University of Leicester, UK.
GEN2PHEN Knowledge Centre:An integrated portal for genotype to phenotype knowledge and ‐ ‐
data
WWW.GEN2PHEN.ORG
www.gen2phen.org
Out
line
www.gen2phen.org
Integrating G2P data
Central database modelCentral DB
Locus-specific database
Genome-wide association database
www.gen2phen.org
GEN2PHENKnowledge
Centre
The GEN2PHEN Strategy
A federated network of databases, not a central database
€12m EC-funded project
Database solutionsLocus-specific databases‘Genomics’ G2P databases
Data import systemsData standardsData exchange mechanisms
The GEN2PHEN Knowledge Centre will fully leverage this network
www.gen2phen.org
AN ONLINE G2P COMMUNITY
www.gen2phen.org
Latest additions
Quick-tabbed sub pages for:
New contentList of Interest GroupsNewsEvent listingBookmarks
Login / Log out / RegisterProfile linksBookmarks
Search box Drop-down menus
www.gen2phen.org
NEWS
www.gen2phen.org
CalendarEvent listingInteractive Map Advertise events
www.gen2phen.org
INTEREST GROUPS
www.gen2phen.org
Interest Groups Public groupAnyone can join & participate
Restricted groupModerated or invite only
www.gen2phen.org
PROGRESSING TO AN INTEGRATED COMMUNITY
AND DATA PORTAL
www.gen2phen.org
• Comprehensive listing of LSDBs
• Add / update list• Available in alternative
formats– XLS– CSV– XML
• Resource accessible to 3rd party websites & tools
www.gen2phen.org
Café RouGE Integration
1. Variations identified by diagnostic laboratories
Discovering/accessing mutation data
3. Variants available at GEN2PHEN Knowledge Centre
2. Central Café RouGE conduit ‘advertises’ data availability
Submission of mutation data
www.gen2phen.org
Holis
tic S
earc
h
Search G2P
www.gen2phen.org
Search G2P
Comments and
annotations
Feed of search results etc.
Web services
Web services
UMDWeb services
Café Rouge
Resource list
www.gen2phen.org
GEN2PHEN Consortiumhttp://www.gen2phen.org/about-gen2phen/partners
University of LeicesterAnthony Brookes’ Bioinformatics Group
Raymond Dalgleish
Fundació IMIMAcácia Reiche
The GEN2PHEN Knowledge Centre has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.
Tim Beck Rob Hastings
Rob Free Owen Lancaster
Sirisha Gollapudi Gudmundur Thorisson
Leaflets available
Contact me:
