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Illumina Sequences the First African Human Genome
Accomplishment Marks a Significant Milestone Enabling Economical Human Genome
Resequencing
San Diego, Calif., February 7, 2008 — Illumina, Inc. (NASDAQ:ILMN) today
announced that scientists at the Company have sequenced the genome of an
anonymous African male (Yoruba from Ibadan, Nigeria), using the Genome Analyzer.
Sequencing of this HapMap sample was conducted internally and marks the first
human genome sequence generated exclusively with paired reads of 35 to 50 bases
in length. Leveraging recent system improvements that increase the throughput
and improve the accuracy of the Genome Analyzer, Illumina scientists were able
to complete this project in a matter of weeks. More than 95 percent of
production runs generated high-quality data with an average of over three
billion bases (three Gb) per run. This achievement establishes the direct
utility of Illumina’s sequencing technology for accurately sequencing large and
complex genomes.
“This landmark project demonstrates that scientists can use the Genome Analyzer
today to economically and rapidly complete large-scale sequencing projects
including human genome sequencing,” said Jay Flatley, President and Chief
Executive Officer of Illumina. “With this project we have established both the
efficacy of our technology to consistently produce large volumes of high-quality
data, and the utility of our unique short-insert paired read approach for
large-scale sequencing.”
Using paired reads primarily from 200 base pair (bp) insert size libraries,
supplemented with reads from 2000 bp insert size libraries, Illumina scientists
initially conducted 27 runs to generate over 75 Gb of DNA sequence and achieve
more than 90 percent coverage of the genome. An initial analysis yielded over
3.7 million single nucleotide polymorphisms (SNPs), including more than one
million novel SNPs. As expected, the remaining SNPs correspond to those found in
public databases. The data generated by the Genome Analyzer shows excellent
concordance with those generated using other technologies: of previously known
SNPs, Illumina’s Genome Analyzer shows both 98 percent concordance with data
generated using Illumina’s HumanHap550 genotyping BeadChip, as well as with data
generated by the HapMap project. The high concordance rate of SNPs detected by
the Genome Analyzer with SNPs detected by independent technologies affirms the
accuracy of Illumina’s sequencing technology for discovery and validation of
polymorphisms. Additional analysis work is under way using both long- and
short-insert read pairs to characterize known and novel structural variation in
this genome.
“This study is a testament to the robustness of the system and the speed and
economic benefits of Illumina’s sequencing technology,” said David Bentley,
DPhil, Vice President and Chief Scientist at Illumina. “Making whole human
genome sequencing routine will enable the study of natural human variation all
over the world, and enable the use of medical sequencing at the whole genome
level to unravel the full spectrum of mutations, which give rise to cancer.”
Data and analyses from this project will be presented by Dr. Bentley on February
8th at the 2008 Advances in Genome Biology and Technology (AGBT) conference in
Marco Island, Florida.
About Illumina
Illumina ( www.illumina.com ) is a leading
developer, manufacturer, and marketer of next-generation life-science tools and
integrated systems for the large-scale analysis of genetic variation and
biological function. Using our proprietary technologies, we provide a
comprehensive line of products and services that currently serve the sequencing,
genotyping, and gene expression markets, and we expect to enter the market for
molecular diagnostics. Our customers include leading genomic research centers,
pharmaceutical companies, academic institutions, clinical research
organizations, and biotechnology companies. Our tools provide researchers around
the world with the performance, throughput, cost effectiveness, and flexibility
necessary to perform the billions of genetic tests needed to extract valuable
medical information from advances in genomics and proteomics. We believe this
information will enable researchers to correlate genetic variation and
biological function, which will enhance drug discovery and clinical research,
allow diseases to be detected earlier, and permit better choices of drugs for
individual patients.
"Safe Harbor" Statement under the Private Securities Litigation Reform Act of
1995: this release may contain forward-looking statements that involve risks and
uncertainties. Among the important factors that could cause actual results to
differ materially from those in any forward-looking statements Illumina's
ability (i) to integrate effectively our recent acquisition of Solexa, Inc.,
(ii) to develop and commercialize further our BeadArray(TM), VeraCode(R) and
Solexa(R) technologies and to deploy new gene expression and genotyping products
and applications for our technology platforms, (iii) to manufacture robust micro
arrays and Oligator(R) oligonucleotides, (iv) to integrate and scale our
VeraCode technology, (v) to scale further oligo synthesis output and technology
to satisfy market demand derived from our collaboration with Invitrogen,
together with other factors detailed in our filings with the Securities and
Exchange Commission including our recent filings on Forms 10-K and 10-Q or in
information disclosed in public conference calls, the date and time of which are
released beforehand. We disclaim any intent or obligation to update these
forward-looking statements beyond the date of this release.
CONTACT:
Media outside USA:
Katie Odgaard / Claire Mosley
College Hill
+44 (0)20 7457 2020
illumina@collegehill.com
Illumina:
Investor:
Maurissa Bornstein
Peter J. Fromen
Public Relations Manager
Sr. Director, Investor
858.332.4055
858.202.4507
mbornstein@illumina.com
pfromen@illumina.com
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