WAVe at GEN2PHEN

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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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