Hello, again, Anelia, A colleague suggested that you may be interested in dbGap ?
http://www.ncbi.nlm.nih.gov/gap regards, --b0b kuhn On 1/20/2012 4:07 PM, robert kuhn wrote: > Hello, Anelia, > > The whole area of genotype-phenotype associations is fraught with > technical and ethical difficulties, especially when it comes to > attempting to diagnose or treat disease. At the Genome Browser, we > are not experts in this area and would not attempt to make predictions > about individual nucleotides. > > Having said that, the OMIM project (omim.org) does have a curated set > of alleles that we present as a track in the Browser. It is known as > the OMIM AV SNPs (AV= Allelic Variant) track and is found in the second > blue-bar track group beneath the main Browser graphic (Phenotype and > Disease Associations). The data in this track are rather sparse and > should be used with extreme caution. It is important to read the entire > record at omim.org (follow the link on the details page after clicking > an item) carefully before reaching any conclusions. > > You may also be interested to know about the Variant Effect Predictor at > Ensembl, which makes molecular (not medical!) predictions about the > affect a variant SNP would have on a protein. > > best wishes in your work and thanks for using the UCSC Genome Browser. > > --b0b kuhn > ucsc genome bioinformatics group > > > On 1/20/2012 2:09 PM, Horvath, Anelia (NIH/NICHD) [E] wrote: >> How can I access data on the phenotype of the individuals with a >> certain rare SNP, or at least get the info if they have been >> considered healthy controls? >> >> Also, is it possible to download the genome/exome data from an >> individual with a certain SNP? >> >> Thank you so much in advance, >> >> Kind regards, >> >> Anelia >> >> >> ****************************************** >> Anelia Horvath, PhD >> NIH/NICHD, PDEGEN >> 10 Center Dr, CRC, Rm 1E-3216 >> Bethesda, MD 20892 >> Tel: +1 (301) 402 1998 >> Fax:+1(301) 402 0574 >> ****************************************** >> >> _______________________________________________ >> Genome maillist - [email protected] >> https://lists.soe.ucsc.edu/mailman/listinfo/genome _______________________________________________ Genome maillist - [email protected] https://lists.soe.ucsc.edu/mailman/listinfo/genome
