Validated Genome-Wide SNP Assay Set

Two independent high-resolution genome screens of the human genome, using a portfolio of 25,000 genetic markers, have been completed. The validated genome-wide marker single nucleotide polymorphism (SNP) assay set can be used by drug researchers searching for disease targets.

The assay set was developed by Sequenom, Inc. (San Diego, CA, USA), a discovery genetics company. Sequenom completed an initial screen for genes linked to age-related diseases, testing pooled samples of DNA from nearly 1,500 individuals across the 25,000 markers. A subsequent screen compared DNA from more than 1,000 melanoma patients and controls across the SNP assay set to identify genes linked to melanoma.

The initial full genome screen was performed using DNA samples from healthy individuals grouped by age and gender. This enabled Sequenom to monitor the occurrence of SNPs as a function of age in the healthy population and assess the statistical linkage of virtually every gene in the human genome with the trait of health. As a result, a comprehensive portfolio of candidate age-dependent genes was identified, indicating associations to diverse adult onset diseases such as cancer and cardiovascular disease.

"The SNPs in our 25,000 set have a median spacing of 40 kb with a bias toward the gene coding and promoter regions. This allows for the discovery of genes in linkage disequilibrium with our relatively evenly spaced markers,” said Andi Braun, M.D., Ph.D., chief medical officer of Sequenom. "Furthermore, our 100,000 marker set reduces the median spacing even further to 8 kb.”





Related Links:
Sequenom