Providing the industry-leading panel of markers for genomic variants
in protein coding regions
Affymetrix, Inc. (NASDAQ:AFFX) today announced the release and immediate
shipment of its Axiom Exome Genotyping Arrays, which provide the highest
coverage of novel, putatively functional coding variants available.
Affymetrix Axiom(R) Exome Genotyping Arrays (Photo: Business Wire)
The exome, comprising the protein coding regions of the human genome, is
the site of over 85% of causal mutations in single gene disorders. In
genetic studies of common, complex disorders, the exome is implicated in
approximately 60% of disease susceptibility regions discovered to date.
By genotyping a large number of exonic variants, researchers will have
much greater access to biologically relevant markers with which to
identify the most disease-relevant variants for downstream functional
validation. These functional studies are expected to be time-consuming
and costly but are essential. The Axiom
Exome Genotyping Arrays enable a rapid and cost-effective
prioritization of candidate causal variants and give researchers the
confidence that they are investing their time and budget in the most
disease-relevant putatively functional variants.
"The Axiom Exome Genotyping Arrays are the most powerful, innovative,
and informative exome genotyping arrays in the marketplace," said Andy
Last, PhD, Executive Vice President of Genetic Analysis and Clinical
Applications Business Unit at Affymetrix. "We worked very closely with
key opinion leaders to develop the most comprehensive, functionally
relevant content and deliver a very cost-effective solution that allows
researchers to run large sample sizes to achieve greater statistical
The Axiom Exome Genotyping Arrays exceed the coverage for high-value
coding variants compared to currently available arrays on the market.
These variants are very rare and cannot be efficiently imputed or
tagged. Therefore, it is crucial that as many variants as possible are
physically interrogated on the array to maximize important disease
variants being screened, identified, and prioritized for functional
validation. More than 35,000 single-base and complex insertion and
deletion markers (indels) previously not utilized in complex trait
genetic studies are included in the more than 318,000 markers on the
Axiom Exome Genotyping Arrays. Indels are now at the cutting edge of
genetics and recognized by thought-leaders as a class of variants that
is likely to be a key factor underlying inherited human traits and
diseases. Further, the Axiom Exome Genotyping Arrays include a set of
highly informative markers that can enrich previous genome-wide
association studies (GWAS), including Ancestry Informative Markers
(AIMs), previous GWAS hits, markers for analyzing identity by descent,
HLA profiling, and many others. By including a wider selection of AIMs,
stratification in admixed populations is possible. These AIMs haven been
selected from previous commercial arrays and a novel panel developed by
the National Cancer Institute's Latino Ancestry Cancer Epidemiology
The Axiom Exome Genotyping Arrays not only offer greater content but
also ensure content consistency over time. It is important that the
content on a given array is highly reproducible over time among
different manufacturing batches when genotyping rare variants in cohort
and case-control studies. Unlike array manufacturing approaches where
variation of array content can be observed between manufacturing
batches, Affymetrix' array production technology assures that each Axiom
Exome Genotyping Array produced in the future has exactly the same
content as an array produced today.
The Axiom Exome Genotyping Arrays are available as a standard catalog
item and as a customizable version where customers can choose to include
up to 100,000 additional markers specific to candidate genes and regions
within their area of research. Researchers can submit their own de
novo SNPs of interest from NGS or prior GWAS studies and also select
variants from more than 11 million genotype-tested markers contained in
Affymetrix' Axiom® Genomic Database to create their
own personalized exome array.
Affymetrix worked in close collaboration with leading geneticists to
identify the most informative coding SNPs, indels, and other markers to
define the Axiom Exome Genotyping Arrays. The marker panels on the Axiom
Exome Genotyping Arrays were derived from novel variants discovered in
16 major exome sequencing initiatives by sequencing 12,000 ethnically
diverse genomes of European, African, Asian, and Latino ancestry from
several disease cohorts including cancer, type 2 diabetes, neurological
disorders, and other phenotypic traits.
Leveraging the advanced Axiom®
Genotyping Solution platform, the Axiom Exome Genotyping Arrays'
genotyping performance was proven by genotyping approximately 1,200
ethnically diverse samples from International HapMap Project and 1000
Genomes Project sample collections with the Axiom Exome Genotyping
Arrays. The resulting genotype data set has been shared with the 1000
Genomes Project and is downloadable for the broader scientific community
from the Affymetrix website.
The Axiom Exome Genotyping Arrays are part of the complete Axiom®
Genotyping Solution which includes the Axiom® Exome
Genotyping Array Plate in the 96-sample format with the Axiom®
2.0 Reagent Kits, an automated target preparation station, the GeneTitan®
MC Instrument, and the new Genotyping Console? Software 4.1 for
automated allele calling and quality control.
Affymetrix technology is used by the world's top pharmaceutical,
diagnostic, and biotechnology companies, as well as leading academic,
government, and nonprofit research institutes. More than 25,000
peer-reviewed papers have been published using the technology.
Affymetrix is headquartered in Santa Clara, Calif., and has
manufacturing facilities in Santa Clara, Cleveland, Ohio, and Singapore.
The company has about 900 employees worldwide and maintains sales and
distribution operations across Europe, Asia, and Latin America. For more
information about Affymetrix, please visit http://www.affymetrix.com.
All statements in this press release that are not historical are
"forward-looking statements" within the meaning of Section 21E of the
Securities Exchange Act as amended, including statements regarding
Affymetrix' "expectations," "beliefs," "hopes," "intentions,"
"strategies" or the like. Such statements are subject to risks and
uncertainties that could cause actual results to differ materially for
Affymetrix from those projected. These and other risk factors are
discussed in Affymetrix' Form 10-K for the year ended December 31, 2010,
and other SEC reports for subsequent quarterly periods.
NOTE: Affymetrix, the Affymetrix logo, Axiom, GeneChip, GeneTitan, and
Genotyping Console are trademarks or registered trademarks of
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Mindy Lee-Olsen, 408-731-5523
Vice President, Marketing Services
Doug Farrell, 408-731-5285 (Office)