Affymetrix, Inc. (NASDAQ:AFFX) today introduced Axiom® Biobank Arrays, a flexible and high-powered functional biology solution for affordably genotyping large sample collections such as those screened at biobanks, genome centers, and core labs.
Axiom ® Biobank Arrays were designed in close collaboration with several leading research institutions as best-in-class next-generation products that enable researchers to capture genotypes of a wide range of potential disease-causing variants in a single experiment. The arrays, available in both catalog and custom versions, incorporate multiple content categories including a powerful advanced design Genome-Wide Association Study (GWAS) panel of genotype-tested markers for high-coverage analysis in major ethnic groups, rare coding SNPs and indel markers for exome analysis from Affymetrix’ content-leading Axiom ® Exome Array, ADME and other clinically relevant markers, and newly discovered loss-of-function variants including sequence insertions and deletions from recent exome sequencing initiatives.
Dr. Daniel MacArthur, Assistant Professor at Massachusetts General Hospital explained, “Loss-of-Function (LoF) variants are genetic changes that are predicted to be seriously disruptive to the function of protein-coding genes. These come in many forms, ranging from a single base change that creates a premature stop codon in the middle of a gene, all the way up to massive deletions that remove one or more genes completely. We know these types of genetic changes are highly enriched for effects on disease risk, but fully uncovering these effects will require examining them in tens of thousands of people. Flexible, cost-effective technologies like the Axiom ® technology will enable powerful experiments on this scale.”
This new content and the highly automated sample processing capabilities of the Axiom ® Genotyping Solution platform will enable high throughput projects from large sample cohorts such as the established biobank collections around the world. Dr. Andrew Brooks, COO of the world’s largest university-based biorepository, RUCDR Infinite Biologics, stated “Sample collections are increasing at an unprecedented rate and in order to maximize utility of these large studies new technologies are required that allow for in depth analysis of genetic variation which combines the quality control process with valuable discovery based data at very low price points. Axiom Biobank Arrays enable this and the easy high throughput workflow we have as a part of our technology infrastructure allows for rapid, large scale implementation.”Axiom ® Biobank Arrays are the most powerful, advanced and cost-effective in their class with over 600,000 variants and provide customers the flexibility to add up to 50,000 of their own variants and the additional freedom to fully interchange variants in any of the content categories to meet the needs of their specific studies. Axiom Biobank Arrays contain a powerful GWAS panel that employs a unique upstream design strategy selecting variants optimized for downstream imputation analysis to provide coverage across millions of SNPs and indels using an approach based on technology licensed from the University of Oxford. This provides power unmatched by competing product offerings for this number of variants. With Affymetrix’ advanced manufacturing technology, Axiom Biobank Arrays, like all Axiom arrays, have extensive customization capability and content can be quickly and cost effectively added or interchanged based on customers’ specific needs. Customers can use the pre-designed array or submit their own content or select from the Axiom database of already genotype-tested SNPs and indels which cover genetic variation in over 26 million markers from the 1000 Genome Phase I March 2012 release. In addition to the broadly applicable Axiom Genotyping Arrays, Affymetrix plans to leverage its capabilities to build a range of affordable biobank genotyping arrays optimized for screening various sample collections, including those focused on particular diseases, specific geographic populations or ethnicities, and other study groups.