Researchers Use 454 Sequencing to Publish the Complete Genome of an Individual Human,...

Researchers Use 454 Sequencing to Publish the Complete Genome of an Individual Human, Achieving a Key Milestone on the Path to Personalized Genome Sequencing

Study in Nature Establishes Quality Standard For the Routine
Sequencing of Humans
BRANFORD, Conn.--(Business Wire)--
454 Life Sciences, a centre of excellence of Roche Applied
Science, today announced that researchers at Baylor College of
Medicine and 454 have published the complete DNA sequence and analysis
of an individual human diploid genome. The genome was analyzed using
the 454 Sequencing technology to 7.4 redundancy, facilitating a
detailed comparison against the publicly available reference human
sequence. The study, entitled "The complete genome of an individual by
massively parallel DNA sequencing" appears today in the journal
Nature.

"This project sets a high standard for the key metrics from
next-generation sequencing projects," said Dr. Richard A. Gibbs,
Co-senior author on the Nature study and The Wofford Cain Professor,
Department of Molecular and Human Genetics and Director, Human Genome
Sequencing Center, Baylor College of Medicine. "The number of genetic
variants that were detected and the completeness of how much of the
genome was characterized both show the high quality of the data. It
replaces the Sanger sequencing methods. The 454 technology has
improved even more since the project, and we are looking forward to
carrying out more whole human genome sequencing projects with even
better performance."

The groundbreaking sequencing effort has been hailed for the
reduction in time and cost by orders of magnitude over conventional
Sanger sequencing technology. However, the key metrics of this
project's success are the quality of the mapped sequence data as well
as establishing a more complete representation of the human genome
from those first published in 2001 and in 2003. Similar to the recent
publication of a diploid human genome led by J. Craig Venter, Ph.D.,
and his team at the J. Craig Venter Institute, the data analysis
revealed the presence of many single nucleotide polymorphisms (SNPs),
3.3 million including more than 600,000 previously uncharacterized
SNPs compared to the reference sequence. Furthermore, the 454
Sequencing data was of such high quality that researchers were also
able to detect over 200,000 insertion and deletion polymorphisms as
well as copy number variations including the large scale gain and loss
of chromosomal segments. Importantly, 454 Sequencing technology
eliminates the major sources of bias seen in conventional Sanger
sequencing due to bacterial cloning and consequently, the study
reveals the identification of novel human sequence including several
additional genes not previously identified.

"Our previous publication of the HuRef genome coupled now with
this publication in Nature sets a very high bar for future human
genome sequencing projects," said Dr. Venter, Founder and President of
the J. Craig Venter Institute. Dr. Venter was a leading figure in the
race to sequence the first analysis of the human genome and in 2007
published his entire diploid genome which was done with conventional
Sanger sequencing technology. "The era of personalized genomics is
just beginning and will only have the greatest impact on clinical
medicine and all lives when there are a significant number of full
diploid genomes in the public domain. I applaud 454 and Baylor for
advancing this cause with this publication and their promising new
sequencing technology."

The initial sequencing phase of the project was completed a year
ago on the Genome Sequencer FLX System, a production sequencing
instrument available to researchers worldwide since February 2007. His
personal genome sequence was presented to Dr. James D. Watson on a
portable hard drive at a ceremony at the Baylor College of Medicine on
May 31, 2007. Dr. Watson, after consultation with a genetic counselor,
chose to make the sequence data publicly available, omitting only the
Apo E gene and neighboring sequence associated with Alzheimer's
Disease. The sequence data has since been available to researchers
worldwide. The data and viewing software can be found online at
www.jimwatsonsequence.cshl.edu.

"Our study proves that generating high-quality sequence from
humans, quickly and affordably, is now feasible. This study is just
one of several early milestones on our path to routine human
sequencing" said Dr. Michael Egholm, Ph.D. co-author on the Nature
study and Vice President of R&D at 454 Life Sciences. "Later in 2008,
we will again decrease the cost and increase the quality of sequencing
by launching new reagent kits for the Genome Sequencer FLX. These new
kits will increase the instrument's throughput by at least five-fold
and extend the read length beyond 400 bases."

"I am proud of the entire team at 454 for this achievement which
reflects Roche's commitment to innovation in healthcare, from basic
research through patient care," said Chris McLeod, President of 454
Life Sciences. "Understanding the genetic basis of disease is a
critical component of our vision for personalized health care. 454
Sequencing technology has repeatedly demonstrated its ability to
characterize DNA to a level that is truly changing our understanding
of how genetics works, and this will consequently play a leading role
at the intersection of basic research, diagnostics, and therapeutics."

454 Life Sciences, a center of excellence of Roche Applied
Science, develops and commercializes the innovative Genome
Sequencer(TM) system for ultra-high-throughput DNA sequencing.
Specific applications include de novo sequencing and re-sequencing of
genomes, metagenomics, RNA analysis, and targeted sequencing of DNA
regions of interest. The hallmarks of 454 Sequencing(TM) are its
simple, unbiased sample preparation and long, highly accurate sequence
reads, including paired reads. 454 Sequencing technology has enabled
many peer-reviewed studies in diverse research fields, such as cancer
and infectious disease research, drug discovery, marine biology,
anthropology, paleontology, and many more.

For additional information, please visit http://www.454.com. For
more information on the technology, visit
www.roche-applied-science.com/sis/sequencing.

About Roche

Headquartered in Basel, Switzerland, Roche is one of the world's
leading research-focused healthcare groups in the fields of
pharmaceuticals and diagnostics. As the world's biggest biotech
company and an innovator of products and services for the early
detection, prevention, diagnosis and treatment of diseases, the Group
contributes on a broad range of fronts to improving people's health
and quality of life. Roche is the world leader in in-vitro diagnostics
and drugs for cancer and transplantation, a market leader in virology
and active in other major therapeutic areas such as autoimmune
diseases, inflammation, metabolism and central nervous system. In 2006
sales by the Pharmaceuticals Division totaled 33.3 billion Swiss
francs, and the Diagnostics Division posted sales of 8.7 billion Swiss
francs. Roche employs roughly 75,000 worldwide and has R&D agreements
and strategic alliances with numerous partners, including majority
ownership interests in Genentech and Chugai. Roche's Diagnostics
Division offers a uniquely broad product portfolio and supplies a wide
array of innovative testing products and services to researchers,
physicians, patients, hospitals and laboratories world-wide. For
further information, please visit our website at www.roche.com.

454, 454 Sequencing and Genome Sequencer are trademarks of 454
Life Science Corporation, Branford, US.

All brands or product names are trademarks of their respective
holders.

454 Life Sciences
Brendon Hill, +1 (203) 871 2460
brendon.hill@roche.com
or
Roche Diagnostics GmbH
Dr. Burkhard Ziebolz, +49 (8856) 60 4830
burkhard.ziebolz@roche.com

Copyright Business Wire 2008