Affymetrix Announces the Immediate Shipment of the New Axiom® Exome Genotyping Arrays
24 February 2012 - 1:00AM
Business Wire
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 power.”
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 (LACE) study.
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.
About Affymetrix
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.
Forward-looking statements
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 Affymetrix, Inc.
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