At the 59th annual meeting of the American Society of Human Genetics, Illumina, Inc. (NASDAQ:ILMN) today announced its 2010 roadmap for the Infinium whole-genome genotyping platform, offering products capable of analyzing up to five million (5M) variants per sample.
As part of this announcement, Illumina outlined an ongoing collaboration with leading researchers to select the highest-value markers from the 1000 Genomes Project for the next wave of genome-wide association studies (GWAS). This array content will facilitate testing new scientific hypotheses, including the impact of rare variants, CNVs, and other non-SNP markers on diseases and traits.
“We are at a critical point in human genetics. Next-generation sequencing in the 1000 Genomes Project and medical sequencing studies will soon create a near-complete catalogue of human DNA variants that exist at any appreciable frequency in human populations,” said David Altshuler, Ph.D., M.D., director of the program in Medical and Population Genetics at the Broad Institute. “To better understand whether and how these variants may contribute to human diseases, our collaborative group is working with Illumina to select new content for arrays that will enable ‘next-generation’ GWAS using many millions of variants in thousands of samples.”