MIAMI, Sept 13 – Celera Genomics (NYSE:CRA) of Rockville, Md., said Wednesday that it had launched its Single-Nucleotide Polymorphism Reference Database for the human genome.
Celera’s first database release contains 2.8 million SNPs, including 2.4 million unique, proprietary SNPs taken from Celera’s human genome sequencing work, which decoded the genomes of five donors. The other 400,000 SNPs were culled from public databases.
Celera's SNP database, part of its Web-based Celera Discovery System, is designed to facilitate identification and understanding of human genetic variation important in disease, drug efficacy, and drug toxicity.
The genetic variation data are coupled with the genome, gene, and protein structure data in the company’s Genome Reference Database and linked to specific base pair locations on the genome. The database also contains allele frequency, population data, validation status, and trace data for all variations.
“The advantages of using the whole genome shotgun technique for sequencing genomes are uniform SNP coverage of the genome and the fact that every SNP is mapped to its exact genome location,” said Craig Venter, Celera's president and chief scientific officer.
“Combining the genetic variation information from Celera's diverse donor pool with the annotated human genome and other publicly available sources should give researchers a better understanding of the variations in the genetic code and should enable pharmaceutical, biotech, and academic researchers to discover improved drug therapies through enhanced knowledge of the genetic basis of disease, drug efficacy and drug toxicity in individuals,” said Venter.
As part of this database, Celera has also formed a licensing agreement with the University of Wales College of Medicine, Institute of Medical Genetics at Cardiff that gives Celera and its database subscribers a period of exclusive access to new information being added to the college's Human Gene Mutation Database.
In addition, the agreement allows for future collaborations, including joint software and database development.
After the exclusivity expires, HGMD will be made publicly available through the existing Cardiff website. HGMD is a database of inherited lesions in more than 1000 human genes that includes information about disease-related genes including gene name, published scientific research on each gene, and the gene's chromosomal location.
New proprietary information will, during the period of exclusivity, be added. In addition to the HGMD, Celera has also integrated dbSNP, including information from the SNP Consortium, and variation information from literature mining. DbSNP is a public SNP database offered in collaboration by the US National Center for Biotechnology Information and the US National Human Genome Research Institute.