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Spanish partners to develop low-cost informatics methods for clinical genomics
March 2012
EDIT CONNECT
SHARING OPTIONS:
GRANADA, Spain—Integromics SL, a company that provides IT
solutions for life sciences in the areas of genomics and proteomics, has
entered into a partnership
with Prof. Angel Carracedo and his team at the
Galician Foundation of Genomic Medicine (FPGMX), a recipient of the European
Life Technologies Ion
Torrent Visionary Winners Award, for the development of
inexpensive solutions for clinical genomics.
Life Technologies acquired Ion Torrent in late 2010 in a
move targeting acquisition of the
services of life-sciences pioneer Dr.
Jonathan Rothberg, as well as his company that has spawned the latest
innovation in gene sequencing. At that
time, Life Technology's CEO Mark Stevenson
noted that Rothberg and his DNA semiconductor-based sequencing technology were
key to the acquisition. Now,
via its awards program, Ion Torrent appears to
acknowledge that data interpretation is the next hurdle in reaching the goal of
clinical and diagnostic
use of next-generation sequencing (NGS).
The first product using Ion Torrent technology is the
Personal
Genome Machine (PGM), an easy-to-use, highly accurate benchtop
instrument that is initially being marketed for mid-scale sequencing projects,
such as
targeted and microbial sequencing. The instrument is being provided
free to Ion Torrent Award winners and is pegged at an entry cost of less than
$100,000. In less than a year since
Life Technologies commercially launched the PGM, the semiconductor-based
instrument has become the best-selling,
next-generation sequencing machine in
the world, and it is democratizing DNA sequencing, the company claims. The PGM
enabled two independent teams of
scientists in Germany and China to quickly
decipher the deadly E. coli bacterium that recently caused more than
50 deaths in Europe.
Based on the strength of its R&D work, the new
partnership between the two Spanish organizations has
also been awarded a $1.3
million grant from the European Regional Development
Fund and the Spanish government
for a project called "Advanced analysis and interpretation of low-cost next
generation sequencing data for
clinical applications (ApliClinics LC-NGS)." The
interpretation of NGS data has been recognized as a major bottleneck in the
adoption of personalized
medicine, both in terms of cost and time. The
ApliClinics collaboration is designed to address the issues, at the bench and
bioinformatics levels,
being faced by the clinical labs trying to apply NGS
technology.
The project aims to improve
procedures and optimize tools to
make the use of NGS faster in the routine healthcare environment, which will
alleviate the current lack of
applications critically needed by clinicians, as
well as helping to lessen their workload.
"This will be the first
time that Integromics will be
working side-by-side with clinicians to bridge the gap between our NGS
technology and how it translates into healthcare
for patients," says Eduardo
González Couto, chief strategy officer of Integromics. "The synergy of the
clinical genomic pioneers from the FPGMX and
the expertise of the
bioinformaticians we have at Integromics will undoubtedly help to accelerate
the development of solutions for clinical genomics.
Automated next-gen
sequencers have increased the speed and reduced the cost of sequencing, making
it possible to offer genetic testing to consumers.
Producing the genomic data
is no longer a problem, however; it is the analysis and interpretation of the
data that has become the 'new frontier.' In
order to characterize and interpret
the data for medical usage, novel bioinformatics tools are crucially needed."
"The interest of the group, in addition to genomic research,
is the practical translation of next generation sequencing to
clinical routine
casework," says Carracedo, director of the FPGMX. "For this reason this project
is essential for us. In this moment the bottleneck
is not data production but
to have bioinformatic tools allowing us to obtain reliable and accurate
information of the variation found after DNA
sequencing using NGS facilities,
which is the main objective of this project."
Integromics
expects to announce the first results of the
ApliClinics project before year-end.
The
Integromics
solution
Integromics'
OmicsOffice offers an all-in-one software platform for
straightforward analysis
and management of genomic data, combining real-time PCR (RT-qPCR), microarray
gene expression and next generation sequencing
(NGS) data to meet the needs of
modern genomics research.
Part
of the platform is SeqSolve, an
advanced and
user-friendly software solution for the tertiary analysis of NGS data. By
integrating state of-the-art bioinformatics methods into one-
click analysis
workflows, SeqSolve provides scientists with a unique combination of cutting edge
algorithms and intuitive user experience. Its Click
And Go technology enables
the automatic processing of the data and includes a Smart Quality Control
system, which makes it both simple to use for non-
experts and reliable in terms
of biological results. Code: E031219 Back |
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