PEDRO LOPES pedrolopes@ua.pt GEN2PHEN GAM6 - Montpellier September 27th, 2010
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WHAT IS WAVe?
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WEB ANALYSIS OF THE VARIOME
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Enable agile access to integrated & enriched human variome research datasets
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Genes * [LSDBs + Variants + Original Resources]
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An extensible lightweight integration & enrichment platform for genomic variation datasets 3
http://bioinformatics.ua.pt/WAVe
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HIGHLIGHT | RESOURCES ‣ LSDB • LOVD + MUTbase + UMD + misc legacy
‣ GENE • GeneCards + GeneNames + Entrez
‣ PHARMACOGENOMICS • PharmGKB
‣ LOCUS • MapViewer + Ensembl
‣ PUBLICATION
‣ PATHWAY
‣ DISEASE
‣ PROTEIN
~ 1350 Genes, 1550 LSDBs, 80k Variants, 100k Links ! • QuExT • KEGG + Reactome • OMIM
• UniProt + PDB + Expasy + InterPro
‣ GENE ONTOLOGY • AmiGO
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HIGHLIGHT | FEATURES ‣ GENE SEARCH • Direct access to genes ‣ Auto-suggest engine
‣ API • RSS/XML access to data ‣ Usable in any framework • Genes
‣ GENE ANALYSIS WORKSPACE • Navigation tree ‣ Holistic perspective on all data • “Live view” mode
‣ Access navigation tree data ‣ Google Chrome Extension • Variants ‣ Only platform that aggregates variants from multiple sources
‣ Shows original applications/content
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FUTURE PERSPECTIVES ‣ USER INTERACTION • Global search + augmented browsing + tabbed browsing + custom profiles
‣ RESOURCES • All genes • Café RouGE + LOVD-worldwide • dbSNP + HapMap + 1000 Genomes • LRG...
‣ SEMANTIC WEB • Meaningful relationships ‣ Gene to Protein ≠ Gene to Variant ≠ Gene to Enzyme ≠ ...
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YOUR FEEDBACK IS HIGHLY APPRECIATED QUESTIONS? THANK YOU!
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