MONTREAL–Illumina, Inc. today announced the availability of novel human exome content for three new microarrays, the Infinium HumanExome, OmniExpressExome, and HumanOmni5Exome BeadChips. This content provides rapid and economical interrogation of over 250,000 variants within the protein coding regions of the human genome, enabling a range of study types aimed at uncovering functionally relevant disease associations.

The BeadChip content was selected by prominent geneticists with the goal of delivering the most extensive catalog of exome variants. Selected markers were identified from over 12,000 sequenced genomes representing diverse populations and a number of common conditions, including type 2 diabetes, cancer, and metabolic and psychiatric disorders.

“These arrays were created through a close collaboration with leading experts on human disease-related variation,” said Tristan Orpin, Illumina’s Senior Vice-President and Chief Commercial Officer. “The success of this effort illustrates the power of using Illumina’s flexible array technology to incorporate new variants discovered from recent studies. Researchers can use these BeadChips to obtain new insights for previously genotyped cohorts, or optimize GWAS projects by maximizing coverage of coding variants within genes.”

The use of both array and next-generation sequencing to develop these BeadChips underscores the complementary roles of these technologies. Novel variants discovered through the power of next-generation sequencing have been deployed on Illumina BeadChips so that researchers can rapidly process large sample numbers to achieve greater statistical power in a cost-effective, straight-forward manner.

“Prior to the consolidation of this exome content, we did not have a fast and economical array to survey almost all of the variation in the coding regions of the human genome,” said Benjamin Neale, Assistant in Medicine at Massachusetts General Hospital. “We can now study very rare coding variants in dramatically larger sample numbers than would be currently practical for sequencing.”

Researchers can also add additional custom markers on all three BeadChips to target specific regions of the genome with higher density, focus on populations of interest, or incorporate selected disease-related variants.

For more information, please visit www.illumina.com/exome.

About Illumina

Illumina (www.illumina.com) is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paving the way for molecular medicine and ultimately transforming healthcare.