Random ramblings about some random stuff, and things; but more stuff than things -- all in a mesmerizing and kaleidoscopic soapbox-like flow of words.
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)
: situation will now improve in EnsemblLocus 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.
will have LRG XML files and prettified HTML reports soon.
Labels: ensembl, genomics, scientific talk