• Proteomics R&D
• Proteomics Partnering
• Genomics R&D
  • Diagnostics Discovery
  • Disease Association Studies
  • Recent Studies
  • Product Development
  • Applera Genomics Initiative
• Recent Publications
• Pharmacogenomics Partnering

Realizing the promise of Targeted Medicine and genomics requires a comprehensive understanding of genetic variation. Building on the completion of the human genome sequence and assembly at Celera Genomics, the three Applera Corporation businesses embarked on the Applera Genomics Initiative (AGI) in July 2001. This $100 million project was commenced primarily to discover Single Nucleotide Polymorphisms, or SNPs, in genes and regulatory regions.

Diversity between individuals is mainly a result of genetic variation in the form of SNPs. Celera prioritized and resequenced approximately 25,000 genes and regulatory regions of 39 human individuals, and one chimpanzee. The AGI led to the discovery of over 294,000 SNPs in genes, of which approximately 75% were novel SNPs not previously identified by other researchers. Based on our analysis of these SNPs, we believe that over 45,000 of the SNPs could affect the amount, stability, or function of proteins. SNPs that have these properties are referred to as “functional” SNPs and may have the greatest biological and medical value.

Celera is now using findings from the AGI as part of its therapeutic target identification programs. Applied Biosystems validated this data and developed whole-genome reagent sets: Assays-on-Demand™ — for SNP genotyping & gene expression, and customized Assays-by-Design™ — allowing easy access to broad genomic content for the first time. Celera is now utilizing the novel SNP information from the AGI in its disease association studies. These studies are intended to lead to the identification of "constellations" of markers that could be used to develop actionable in vitro diagnostic products.