Data Released on 120,000 Validated SNPs

Genotype data and allele frequencies for 120,000 validated single nucleotide polymorphisms (SNPs) selected from both a public database and a proprietary database have been released and are freely available to the public.

The 120,000 genome-wide SNPs were genotyped in the same set of individuals, which will help researchers study the diversity of human variation and the genetic basis of disease and drug response. Although there are millions of SNPs in public databases, most have not been validated or tested in the same set of individuals. The SNPs were released by Affymetrix (Santa Clara, CA, USA) and included the proprietary SNP database developed by Perlegen Sciences, Inc. (Mountain View, CA, USA).

Affymetrix chose this initial release by testing a set of about 535,000 SNPs across 54 people, using its GeneChip DNA analysis arrays—a total of about 29 million genotypes in eight weeks. From this screening process, Affymetrix chose the SNPs that showed the best distribution across the genome and the highest accuracy and call rates. The company is using this SNP data to develop a product that will genotype 100,000 SNPs in a single experiment. The SNP information is available for download on the website of Affymetrix and the University of California.




Related Links:
Affymetrix
University of California