castanyes blaves

European Genotype Archive: Genome Wide Association Studies (GWAS) like WTCCC data and others. Only public information is public available under very strict rules.

NHGRI GWAS will be imported in Ensembl: it's got manually curated data of high quality.

Links in Variation view: link "Phenotype Data (n)"

http://www.ensembl.org/Homo_sapiens/Variation/Phenotype?source=dbSNP;v=rs420259

Diagnostic testing: situation will now improve in Ensembl

Locus specific databases (LSDBs): p53, ABO, collagen, albinism, cystic
fibrosis, Altzheimer's disease, ... >700

The main aim is to be able to link the reference CDS sequence used by the biomedical community to the most up-to-date reference sequence in the genomics community. This mapping will allow clinicians to link all phenotype data on their end to the genomic data in the genomic community.

Political pros and cons have to be carefully handled and continuously explained. Ensembl openness, existing infrastructure and visibility is the biggest selling point to have these dbs linked in a common LSDB resource.

Website here will have LRG XML files and prettified HTML reports soon.