Worldwide Public-Private Support Enables Perlegen Sciences To Expand Its Contribution To International HapMap Project, Providing Over One Billion Genotypes In 2005
Perlegen was awarded a grant by the National Human Genome Research Institute (NHGRI) last September to support the International HapMap Project. With that original funding, Perlegen began using next generation Affymetrix high density oligonucleotide array technology to genotype over 2.25 million unique single nucleotide polymorphisms (SNPs) in 270 samples from the four populations being studied by the HapMap Project. The original funding was for the generation of over 600 million genotypes. Perlegen will now increase the number of SNPs attempted to the vast majority of all SNPs in the public domain, which will result in over one billion genotypes. The increased funding is being provided by a variety of institutions and corporations for the benefit of the public. These include the Wellcome Trust, Genome Canada/Genome Quebec, Bristol-Myers Squibb, Pfizer, NHGRI, and Perlegen Sciences. The donations from the two pharmaceutical companies were coordinated by The SNP Consortium, Ltd., of Deerfield, Ill.
The goal of the International HapMap Project is to produce a resource that describes the haplotypes, which are patterns of inherited genetic variants, in the human genome and the SNPs that tag them. The initial International HapMap Consortium members are genotyping about 1 million SNPs in the 270 samples, for a total of about 270 million genotypes. The expansion announced here, to well over one billion total genotypes, will significantly enhance the HapMap effort, which will benefit the entire scientific community and future research. The identification of haplotype-tagging SNPs that indirectly assay variation across the entire genome will significantly decrease the number of genotyping reactions required in association studies, thus making powerful large scale studies more feasible. By using the HapMap tag SNPs, researchers around the globe will be able to examine candidate regions or the entire genome for association with a phenotype in a more efficient and comprehensive way.
"Humanity is making great strides in expanding its knowledge of the genome, thanks to the many efforts of international researchers working together," stated Kelly A. Frazer Ph.D., Vice President of Genomics at Perlegen. "Genetic studies made possible by the human haplotype map will lead to improved human health and quality of life in the future."
"By winning the competition last September for extremely cost efficient genotyping, Perlegen demonstrated its technology could move the HapMap project to a level of genome coverage not dreamed of when the project began in October 2002. Now, thanks to the generosity of multiple funding donors and a remarkable 'in kind' donation of services from the scientists at Perlegen, this next phase of the HapMap will be able to incorporate virtually all genetic variants in the public databases," stated Francis Collins, M.D., Ph.D., Director of the National Human Genome Research Institute.
The HapMap consortium includes researchers in six countries: Japan, the United Kingdom, Canada, China, Nigeria, and the United States.
Perlegen will complete all of the genotyping during 2005. The data generated by Perlegen and the other members of the consortium are being made freely available to all researchers through the HapMap Data Coordination Center at the Cold Spring Harbor Laboratory (www.hapmap.org), dbSNP (www.ncbi.nlm.nih.gov/SNP), and the JSNP Database in Japan (http://snp.ims.u-tokyo.ac.jp/).