Complete Genomics 2/18/10 Molecular Diagnostics and Genomics
“Powering large-scale human genome studies”.
Complete Genomics(CGI) provides high quality, affordable DNA sequencing for commercial- scale research of the genetic mechanisms underlying drug responses and complex diseases. Customers receive assembled sequences and variant reports on the DNA samples they submit for sequencing. Researchers and companies that could not afford to scale-up genome studies will be able to access population-wide human genomic data for a wide variety of diagnostic and discovery applications. The Business Model is to provide sequencing services with the highest quality, ease of use and scalability without the customer needing to make a major investment in instruments or high-performance computing resources. Complete human genomes can be sequenced for a fraction of the cost of current second-generation systems. The unmet need is the systematic study of over 100,000 human genomes, enabling their customers to better understand the interplay between genetics and human disease.This can accelerate development of tailored drugs diseases and advanced disease prevention techniques.
Results indicate a potential reagent cost of only $1500 per 40-fold coverage of DNA at highest quality.
The IP protected sequencing platform is based upon a range of robust proprietary biochemistry, nanotechnology, instrumentation and computing technology. The biochemistry component consists of synthetic DNA, enzymes for DNA engineering and amplification, and fluorescent tags. Nanotechnology capability includes photolithography, robotics and CCD optics. Advanced computing technology and analysis software provides base-calling, mapping, assembly, for rapidly reconstructing genomes from billions of paired-end reads. The sample preparation processes are developed especially for sequencing of large numbers of human genomes.
The CGI sequencing platform employs high-density DNA nanoarrays that are populated with DNA nano-balls (DNBs) and uses a non-sequential unchained read technology, called combinatorial probe-anchor ligation or cPAL, which reduces both reagent consumption and imaging time.These innovations allow sequencing to occur at a lower cost.
Results were published with three reference genomes in Science, 5 November 2009 Vol.327, no. 5961,pp 78-81, Human Genomome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays.
The Company envisions an extensive array of future applications including: exome sequencing to identify rare variants that contribute to diseases such as diabetes, cancer sequencing to better understand cancers’ genetic alterations, and DNA methylation which plays a critical role in the regulation of gene expression an essential mechanism for guiding normal cellular development.
Scientific Advisory Board
Dr.George Church, Harvard Medical School
Dr. Lee Hood, Institute for Systems Biology
Dr. Doug Lauffenburger,MIT
Dr. Mark Chee, Prognosys (Illumina Founder)
Among the VC’s are: Essex Woodlands Health Ventures, Orbimed Advisors, Highland Capital Management, Prospect Venture Partners, Enterprise Partners and OVP VenturePartners.
Pilot operations have commenced with over 20 customers among them: Brigham and Women’s Hospital, Broad Institute, Genentech (Roche) Pfizer, Southwestern Medical Center. Data has been delivered to more than 10 customers with family studies, cancer genomes and other areas.
The Company has more than 125 employees and plans to launch its commercial sequence operations in April 2010. Expansion plans over the next five years include opening up ten genome centers around the world with the capability to one million genomes sufficient capacity to sequence 1000 people in 1,000 disease studies.
Major objectives for 2010 are supporting customer scientific publications, sequencing 5000 complete human genomes and achieve cash breakeven.
See www.completegenomics.com for detailed information.