Complete Genomics
19.01.2012 14:00
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MOUNTAIN VIEW, Calif., 2012-01-19 14:00 CET (GLOBE NEWSWIRE) --
Complete Genomics Inc. (Nasdaq:GNOM) announced today that the Journal of
Computational Biology has published online the company's paper describing some
of the computational methods that enable it to produce highly-accurate whole
human genome sequencing data. The paper is available at
http://www.liebertonline.com/doi/full/10.1089/cmb.2011.0201.
Complete Genomics performs whole human genome sequencing using proprietary
biochemistry based on DNA nanoball arrays and combinatorial probe-anchor
ligation sequencing. As these methods1 produce reads with unique
characteristics, Complete Genomics has developed new methods that call single
nucleotide polymorphisms (SNPs), short substitutions and insertions/deletions.
'The methods described in this paper produce very accurate variant calls,' said
Dr. Clifford Reid, chairman, president and CEO of Complete Genomics. 'The
algorithms described in this paper have been used for all of our 69 genome
public data repository and the more than 3,800 complete, deeply sequenced human
genomes we have delivered to customers to date.' Access to Complete Genomics'
genome data repository is provided free of charge at
http://www.completegenomics.com/sequence-data/download-data/.
The effectiveness of the company's sequencing and bioinformatics approach is
borne out in customer research papers where its data has been used to
investigate lung cancer2, Miller syndrome3, craniosynostosis4 and
hypercholesterolemia5 and published in Science, Nature, The American Journal of
Human Genetics and Human Molecular Genetics, respectively. It is also compared
positively with another sequencing technology in the December issue of Nature
Biotechnology6.
Complete Genomics' approach employs a local de novo assembly process, which
uses a combination of Bayesian analysis and graph-based techniques, for each
variation. This de novo assembly approach, which was pioneered by Complete
Genomics, has since been adopted by other organizations.
The company's assembly approach allows it to call both alleles at a position
independently. This enables Complete Genomics to make complex calls in cases
where both alleles differ from the reference. Furthermore, its algorithms are
particularly adept at detecting variants that are located close to each other.
Complete Genomics' technology is also capable of detecting previously unknown
indels, whereas some other approaches can only check whether a known indel is
present. This additional insight is included in the rich variant reports that
Complete Genomics delivers to its customers. These reports also include copy
number variations (CNVs), structural variations (SVs), transposable element
insertions, and a comparison of tumor and normal samples if applicable. The
comprehensiveness of the standard data reports provided reduces researchers'
data analysis burden when working with Complete Genomics data.
Complete Genomics continues to refine its methods, making improvements in the
quality and cost of data it produces to enable large-scale disease and cancer
studies in the translational research market. 'I'm always looking for ways to
optimize our algorithms so that they run faster and produce more accurate
output,' said Bruce Martin, senior vice president of product development. 'As a
result, Complete Genomics can now map and assemble a genome in less than a day
with very high sensitivity and specificity.'
References
1. Drmanac R, et al.: Human Genome Sequencing Using Unchained Base Reads on
Self-Assembling DNA Nanoarrays. Science, 5 November 2009
(10.1126/science.1181498).
2. Lee W, Jiang Z, Liu J et al.: The mutation spectrum revealed by paired
genome sequences from a lung cancer patient. Nature 465, 473-477 (2010).
3. Roach JC, Glusman G, Smit AFA et al.: Analysis of genetic inheritance in a
family quartet by whole-genome sequencing. Science 328(5978), 636-639 (2010).
4. Nieminen P, Morgan NV, et al.: Inactivation of IL11 signaling causes
craniosynostosis, delayed tooth eruption, and supernumerary teeth. The American
Journal of Human Genetics - 15 July 2011 (Vol. 89, Issue 1, pp. 67-81)
5. Rios J, Stein E, Shendure J, Hobb HH,Cohen JJ et al.: Identification by
whole-genome resequencing of gene defect responsible for severe
hypercholesterolemina. Hum. Mol. Genet. 19(22), 4313-4318 (2010).
6. Lam HYK, Clark MJ, Chen R et al.: Performance comparison of whole-genome
sequencing platforms. Nature Biotechnology. Advance online publication 18
December 2011.
About Complete Genomics
Complete Genomics is the complete human genome sequencing company that has
developed and commercialized an innovative DNA sequencing platform. The
Complete Genomics Analysis Platform (CGA(tm) Platform) combines Complete
Genomics'
proprietary human genome sequencing technology with our advanced informatics
and data management software. The innovative, end-to-end, outsourced CGA(tm)
Service provides customers data ready for genome-based research. Additional
information can be found at http://www.completegenomics.com.
The Complete Genomics logo is available at
http://www.globenewswire.com/newsroom/prs/?pkgid=8216
Forward-looking Statements
Certain statements in this press release, including statements relating to the
ability of Complete Genomics' standard data reports to reduce researchers' data
analysis burden and its continuing refinement of its sequencing methods to
enable large-scale disease and cancer studies, are forward-looking statements
that are subject to risks and uncertainties. Readers are cautioned that these
forward-looking statements are based on management's current expectations, and
actual results may differ materially from those projected. The following
factors, without limitation, could cause actual results to differ materially
from those in the forward-looking statements: the company's limited operating
history, delays in production due to technical issues, delays in capacity
expansion, its ability to reduce the average cost of its sequencing service,
the timing and extent of reductions in the price of its genomic sequencing
service, growth in the market for complete human genomes and any potential
inability to increase yield. More information on potential factors that could
affect the Company's financial results can be found in its Annual Report on
Form 10-K filed on March 30, 2011 and its Quarterly Reports on Form 10-Q,
including those listed under the caption 'Risk Factors.' The Company disclaims
any obligation to update information contained in these forward-looking
statements, whether as a result of new information, future events or otherwise.
CONTACT: Complete Genomics
Jennifer Turcotte
Vice President of Marketing
(650) 943-2846
jturcotte@completegenomics.com
Waggener Edstrom Worldwide
Lisa Osborne
Account Director
(202) 261-7806
lisao@waggeneredstrom.com
News Source: NASDAQ OMX
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DGAP-News: Complete Genomics Publishes Paper Describing Its Informatics Approach for High-Accuracy Whole Human Genome Sequencing
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