Roche exome sequencing a giant step towards personalized medicine
9 February 2009
A key milestone for personalized medicine has been achieved by two
Roche Applied Science companies, Roche NimbleGen and 454 Life Sciences,
in developing revolutionary technologies to resequence all human exons
from individual genomes.
Roche NimbleGen has launched Sequence Capture 2.1M Human Exome
microarrays, built on the HD2 platform, which allows researchers to
capture all exons in the genome (ie the exome) on a single array with
2.1 million long oligonucleotide probes. Coupled with the Genome
Sequencer FLX system from 454 Life Sciences, researchers worldwide now
have the capability to assess genetic variation within the exome of any
Human exome sequencing is considered by many researchers to be the
"holy grail" for resequencing that will lead to significant biomedical
breakthroughs. Exons are the most functionally relevant portion of the
genome and are comprised of short segments of DNA that provide the
genetic blueprint for proteins.
As such, exome sequencing enables the discovery of much of the
functional variation that is responsible for many common and rare
diseases (eg cancer and Alzheimer's disease). Exome sequencing research
is also expected to shed light on why diseases like diabetes occur more
often in certain populations, and can help uncover why drugs are
effective only in a subset of the individuals or population.
Prior to the release of NimbleGen Sequence Capture Human Exome
microarrays, the sequencing of the exome was neither technically nor
economically feasible, as conventional PCR methods for the preparation
of “all” human-coding exons are expensive and time-consuming.
In 2009, the technologies of Roche NimbleGen’s Sequence Capture and
the 454 Sequencing System have made complete human exome sequencing a
reality, and can ultimately produce technology to feed the research
pipeline and nourish the development of personalized healthcare.
When asked about Roche NimbleGen’s role in contributing to
personalized healthcare using Sequence Capture technology, Gerd Maass,
CEO of Roche NimbleGen, stated: “Offering innovative, next generation
tools that are reliable leads to dramatically reducing the costs of DNA
sequencing and opens up new and quicker means for discoveries about
biological disease pathways. In the future, these types of
ground-breaking technologies, and the data and knowledge they provide
are expected to allow comprehensive understanding of any information
from the genome and enable personalized healthcare strategies for
diagnosis, prevention, and treatment”.
As part of Roche Applied Sciences’ commitment to furthering genomics
research, NimbleGen Sequence Capture Human Exome microarrays are an
integrated solution when used with the GS FLX Titanium Series Kits from
454 Life Sciences, launched in late 2008.
The Sequence Capture arrays are optimized for subsequent ultra-high
throughput sequencing with the GS FLX Titanium series kits and enable
accurate detection of genomic variation. The new GS FLX Titanium
chemistry expands upon the previous series by providing researchers with
an even greater sequencing power of more than 400bp sequencing reads and
over 1 million reads per run.
The 454 Sequencing system also includes dedicated analysis tools for
mapping reads and detecting variants from data of captured DNA from
NimbleGen arrays, allowing straightforward interpretation of results.
The Human Exome Array targets ~180,000 human protein coding exons and
~700 miRNA exons using 2.1 million long oligonucleotide probes (>60mer)
on a single microarray. The array design is based on the April 30, 2008
build of the Consensus CDS (CCDS) database project, which represents a
collaborative effort to identify a core set of high-quality human and
mouse protein coding regions.
To learn more, researchers interested in Human Exome arrays can also
search for their genes of interest and examine the coverage by probes
for this design by downloading the annotation files from the Roche
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