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Applied Biosystems: Applied Biosystems Surpasses Industry Milestone in Lowering the Cost of Sequencing Human Genome; Data made available to worldwide scientific community; Project completed for less than $60,000
[March 12, 2008]

Applied Biosystems: Applied Biosystems Surpasses Industry Milestone in Lowering the Cost of Sequencing Human Genome; Data made available to worldwide scientific community; Project completed for less than $60,000


(M2 PressWIRE Via Thomson Dialog NewsEdge)
RDATE:12032008

FOSTER CITY, Calif. -- Applied Biosystems (NYSE:ABI), an Applera
Corporation business, today announced a significant development in the
quest to lower the cost of DNA sequencing. Scientists from the company
have sequenced a human genome using its next-generation genetic
analysis platform. The sequence data generated by this project reveal
numerous previously unknown and potentially medically significant
genetic variations. It also provides a high-resolution, whole-genome
view of the structural variants in a human genome, making it one of the
most in-depth analyses of any human genome sequence. Applied
Biosystems is making this information available to the worldwide
scientific community through a public database hosted by the National
Center for Biotechnology Information (NCBI).

Applied Biosystems was able to analyze the human genome sequence for a
cost of less than $60,000, which is the commercial price for all
required reagents needed to complete the project. This is a fraction
of the cost of any previously released human genome data, including the
approximately $300 million1 spent on the Human Genome Project. The
cost of the Applied Biosystems sequencing project is less than the
$100,000 milestone set forth by the industry for the new generation of
DNA sequencing technologies, which are beginning to gain wider adoption
by the scientific community.

The availability of this sequence data in the public domain is expected
to help scientists gain a greater understanding of human genetic
variation and potentially help them to explain differences in
individual susceptibility and response to treatment for disease, which
is the goal of personalized medicine. Although most human genetic
information is the same in all people, researchers are generally more
interested in studying the small percentage of genetic material that
varies among individuals. They seek to characterize that variation as
either single-base changes, or as a series of larger stretches of
sequence variation known as structural variants. Structural variants
comprise fragments of DNA - which include insertions, deletions,
inversions, and translocations of DNA sequences ranging from a few to
millions of base pairs that have a higher potential of impacting genes
and thus contributing to human disease.

Under the direction of Kevin McKernan, Applied Biosystems' senior
director of scientific operations, the scientists resequenced a human
DNA sample that was included in the International HapMap Project. The
team used the company's SOLiD System to generate 36 gigabases of
sequence data in 7 runs of the system, achieving throughput up to 9
gigabases per run, which is the highest throughput reported by any of
the providers of DNA sequencing technology.

The 36 gigabases includes DNA sequence data generated from covering the
contents of the human genome more than 12 times, which helped the
scientists to determine the precise order of DNA bases and to
confidently identify the millions of single-base variations (SNPs)
present in a human genome. The team also analyzed the areas of the
human genome that contain the structural variation between
individuals. These regions of structural variation were revealed by
greater than 100-fold physical coverage, which shows positions of
larger segments of the genome that may vary relative to the human
reference genome.

"We believe this project validates the promise of next-generation
sequencing technologies, which is to lower the cost and increase the
speed and accuracy of analyzing human genomic information," said
McKernan. "With each technological milestone, we are moving closer to
realizing the promise of personalized medicine."

McKernan's team used the SOLiD System's ultra-high-throughput
capabilities to obtain deep sequence coverage of the genome of an
anonymous African male of the Yoruba people of Ibadan, Nigeria, who
participated in the International HapMap Project. The scientists were
able to perform an in-depth analysis of structural variants by creating
multiple paired-end libraries of genomic sequence that included a wide
range of insert sizes. Most inserts exceeded 1,000 bases. The SOLiD
System has the ability to analyze paired-end libraries with large
insert sizes. For the millions of SNPs identified in the project, the
SOLiD System's 2-base encoding chemistry discriminated random or
systematic errors from true SNPs to reveal these SNPs with greater than
99.94 percent sequencing accuracy.

Another important attribute of the SOLiD System is that, unlike other
available DNA sequencing platforms, the system is inherently scalable
to support higher levels of throughput without requiring changes to the
system's hardware. The high-throughput, accuracy and paired-end
analysis capability of the SOLiD System are expected to continue to
reduce the cost of conducting studies of complex genomes and how
variation in these genomes contributes to conditions such as cancer,
diabetes and heart disease, among others.

Associating Genetic Variation with Cancer and Other Diseases As
in-depth resequencing efforts continue to reveal previously
uncharacterized genetic variation in human genomes, researchers such as
John McPherson, Ph.D., at the Ontario Institute for Cancer Research
expect to be able to associate these genetic variants with diseases
such as cancer. McPherson iscataloging genetic alterations that occur
in different types of cancers to better classify tumors and identify
the important early events driving the disease. These provide critical
targets for refining and developing new targeted treatments and
diagnostic tools.

"Paired-end sequencing is an essential component of whole genome
analysis," said Dr. McPherson. "The tight fragment size range provided
by the SOLiD protocols allows the identification of a wide range of
insertion and deletion sizes. Structural rearrangements are readily
identified and deep genome coverage easily attained due to the high
throughput of this platform."

Evan Eichler, Ph.D., an associate professor of genome sciences at the
University of Washington's School of Medicine and a Howard Hughes
Medical Institute Investigator, focuses his research on the role of
duplicate regions and structural variation in the human genome. Using
computational and experimental approaches, he investigates the
architecture of these regions and their role in evolution and disease.

"To understand the extent and prevalence of structural variation in the
human genome, which is still largely unknown, my lab has been applying
traditional sequencing methods with good results, but much more needs
to be discovered at a faster pace," said Dr. Eichler. "The human
paired-end data being released is of such depth that discovering
smaller structural events at higher resolution becomes possible. The
availability of this dataset in the public domain will accelerate our
understanding of structural variation in normal and disease states, and
open the door to a faster exploration of this type of genetic diversity
across human populations."

Developing Software Analysis Tools for Next-Generation Sequencing
Next-generation sequencing platforms have enabled researchers to
generate more genetic data than ever before. Applied Biosystems' human
resequencing effort represents one of the most comprehensive datasets
of genomic data, which is expected to provide researchers with
libraries of sequence data that will serve as a model for how to
prepare and analyze samples of other complex genomes for future genome
analysis projects.

Applied Biosystems expects that the public availability of the human
sequence data will help drive innovation and speed the development of
new bioinformatics tools. These new tools are expected to enable
researchers to interpret the meaning of the data that provide clues to
better understand various aspects of health and disease. In addition
to the full human dataset, subsets of sequence data are available at
NCBI. These datasets can be accessed by independent academic and
commercial software developers to further enable the development of
analytical tools. Applied Biosystems is making an analysis tool
available through the SOLiD System Software Development Community,
which is expected to help independent software providers to interpret
the subsets of data.

Through its Software Development Community, Applied Biosystems has
established relationships with scientists and bioinformatics companies
to help scientists address next-generation sequencing bioinformatics
challenges and develop tools that are expected to advance data analysis
and management. To access the human sequence data released by Applied
Biosystems, please visit the SOLiD Software Development Community at:
http://info.appliedbiosystems.com/solidsoftwarecommunity. The data
have also been deposited at the National Center for Biotechnology
Information (NCBI, http://www.ncbi.nlm.nih.gov), which is part of the
National Library of Medicine, National Institutes of Health (Bethesda
MD USA). At NCBI, the human sequence data can be located at
ftp://ftp.ncbi.nih.gov/pub/TraceDB/ShortRead/SRA000272 or by the
project name, SOLiD Human HapMap Sample NA18507 Whole Genome Sequence
under accession number SRA000272.

Applied Biosystems is a global leader in the development and
commercialization of instrument-based systems, consumables, software,
and services for the life-science market and is the recognized market
leader in the commercialization of DNA sequencing platforms. Perhaps
best known for its role in developing the technology that enabled the
historic sequencing of the human genome, Applied Biosystems continues
its leadership in DNA sequencing by commercializing technology that
helps scientists to better understand and treat disease based on
genomic information. The company's latest platform for genetic
analysis, the SOLiD System, is the life-science industry's highest
throughput system for DNA sequencing.

About the SOLiD System

The SOLiD System is an end-to-end next-generation genetic analysis
solution comprised of the sequencing unit, chemistry, a computing
cluster and data storage. The platform is based on sequencing by
oligonucleotide ligation and detection. Unlike polymerase sequencing
approaches, the SOLiD System utilizes a proprietary technology called
stepwise ligation, which generates high-quality data for applications
including: whole genome sequencing, chromatin immunoprecipitation
(ChIP), microbial sequencing, digital karyotyping, medical sequencing,
genotyping, gene expression, and small RNA discovery, among others.

Unparalleled throughput and scalability distinguish the SOLiD System
from other next-generation sequencing platforms. The system can be
scaled to support a higher density of sequence per slide through bead
enrichment. Beads are an integral part of the SOLiD System's
open-slide format architecture, enabling the system to generate up to 9
gigabases of sequence data per run. The combination of the open-slide
format, bead enrichment, and software algorithms provide the
infrastructure for allowing it to scale to even higher throughput,
without significant changes to the platform's current hardware or
software.

About the Applied Biosystems Human Genome Dataset

These facts were developed based on 1 gigabase (GB) of data equaling 1
billion (1,000,000,000) bases of DNA sequence.

If all 36 billion bases were spread out at 1 millimeter apart, they
would extend 36,000 kilometers, or more than 4,000 times the height of
Mt. Everest, which at 8,848 meters above sea level, is the highest
mountain on Earth.

If all 36 billion bases were spread along the Great Wall of China at 1
millimeter apart, this would equate to spanning the 5,000 kilometer
wall more than 7 times.

If a person were to proofread the 36 billion bases in this dataset at
one letter per second for 24 hours-per-day, it would take 1,200 years
to read the entire data set.

If each base represented one individual in the world population, the
dataset would account for more than 5 times the entire world population
of 6.8 billion people.

This dataset, at 36 billion bases of DNA sequence, is equivalent to 360
times all of the 100 million visible stars in the Earth's galaxy.

About Applera Corporation and Applied Biosystems

Applera Corporation consists of two operating groups. Applied
Biosystems serves the life science industry and research community by
developing and marketing instrument-based systems, consumables,
software, and services. Customers use these tools to analyze nucleic
acids (DNA and RNA), small molecules, and proteins to make scientific
discoveries and develop new pharmaceuticals. Applied Biosystems'
products also serve the needs of some markets outside of life science
research, which we refer to as "applied markets," such as the fields
of: human identity testing (forensic and paternity testing);
biosecurity, which refers to products needed in response to the threat
of biological terrorism and other malicious, accidental, and natural
biological dangers; and quality and safety testing, such as testing
required for food and pharmaceutical manufacturing. Applied Biosystems
is headquartered in Foster City, CA, and reported sales of
approximately $2.1 billion during fiscal 2007. The Celera Group is a
diagnostics business delivering personalized disease management through
a combination of products and services incorporating proprietary
discoveries. Berkeley HeartLab, a subsidiary of Celera, offers services
to predict cardiovascular disease risk and optimize patient
management. Celera also commercializes a wide range of molecular
diagnostic products through its strategic alliance with Abbott and has
licensed other relevant diagnostic technologies developed to provide
personalized disease management in cancer and liver diseases.
Information about Applera Corporation, including reports and other
information filed by the company with the Securities and Exchange
Commission, is available at http://www.applera.com, or by telephoning
800.762.6923. Information about Applied Biosystems is available at
http://www.appliedbiosystems.com. All information in this press
release is as of the date of the release, and Applera does not
undertake any duty to update this information unless required by law.

About NCBI

As a national resource for molecular biology information, NCBI's
mission is to develop new information technologies to aid in the
understanding of fundamental molecular and genetic processes that
control health and disease. More specifically, the NCBI has been
charged with creating automated systems for storing and analyzing
knowledge about molecular biology, biochemistry, and genetics;
facilitating the use of such databases and software by the research and
medical community; coordinating efforts to gather biotechnology
information both nationally and internationally; and performing
research into advanced methods of computer-based information processing
for analyzing the structure and function of biologically important
molecules.

Applied Biosystems Forward Looking Statements Certain statements in
this press release are forward-looking. These may be identified by the
use of forward-looking words or phrases such as "should, "planned," and
"expect," among others. These forward-looking statements are based on
Applera Corporation's current expectations. The Private Securities
Litigation Reform Act of 1995 provides a "safe harbor" for such
forward-looking statements. In order to comply with the terms of the
safe harbor, Applera Corporation notes that a variety of factors could
cause actual results and experience to differ materially from the
anticipated results or other expectations expressed in such
forward-looking statements. These factors include but are not limited
to: (1) rapidly changing technology and dependence on customer
acceptance of the SOLiD System; (2) the risk of unanticipated
difficulties associated with the further development of the SOLiD
System; and (3) other factors that might be described from time to time
in Applera Corporation's filings with the Securities and Exchange
Commission. All information in this press release is as of the date of
the release, and Applera does not undertake any duty to update this
information, including any forward-looking statements, unless required
by law.

For Research Use Only. Not for use in diagnostic procedures.

Copyright 2008. Applied Biosystems. All rights reserved. Applera,
Applied Biosystems, and AB (Design) are registered trademarks and SOLiD
is a trademark of Applera Corporation or its subsidiaries in the U.S.
and/or certain other countries.

1 Source: National Institute of Health press release from June 26,
2000.

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