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Health See other Health Articles Title: Complete Genomics’ Details New Technology for Whole Genome Sequencing Complete Genomics, Inc. (NASDAQ: GNOM) announced that its Long Fragment Read (LFR) technology for whole genome sequencing dramatically improves accuracy, enables fully-phased genomes, and significantly reduces the amount of DNA required for testing. Complete’s LFR technology should accelerate the use of whole genome sequencing by physicians to diagnose and treat their patients. “We expect the introduction of this technological breakthrough to accelerate the move of whole genome sequencing into patient care, which in turn will begin to change the face of medicine,” said Dr. Clifford Reid, Complete Genomics’ chairman, president and CEO. “The Nature paper by Peters et al. describes how our LFR technology uses ‘barcoded’ DNA to generate whole genome sequencing with approximately one error in 10 million base pairs, or just 600 errors in an entire human genome,” said Dr. Rade Drmanac, the company’s chief scientific officer and inventor of the LFR technology. “This represents a 10-fold increase in accuracy for Complete and is unmatched by any high-sensitivity method currently available.” Until now, determining whether two disease-associated variants were on the same or different parental chromosomes was either impossible or required expensive, low-throughput technologies — an approach often infeasible in a clinical environment. Complete’s new LFR technology not only enables an accurate identification of mutations, but includes phasing that shows which mutations are in fact together on the same parental chromosome. Through phasing, a physician can determine whether a patient with two pathogenic variants in a gene including its regulatory regions is affected or merely a carrier of the trait. In addition, Complete’s LFR technology provides, for the first time, accurate whole-genome sequencing from as few as 10 to 20 cells (only 100 picograms of DNA), making it an ideal choice for small sample clinical sequencing applications including circulating tumor cells, fine needle aspirations, and pre-implantation genetic diagnostics. “In the not-too-distant future, failure to use phasing when providing genomic diagnoses in patient care will be seen as unacceptably inaccurate,” said Dr. George Church, professor of genetics at Harvard Medical School and director of PersonalGenomes.org. “I also suspect that LFR will reveal surprising things we didn’t know were missing because we didn’t have a tool to see them.” The U.S. Patent and Trademark Office has already issued Complete Genomics two separate patents on LFR technology, and additional patent applications, including miniaturization using nanodrops, are pending. Complete Genomics plans to incorporate the new technology into its sequencing offerings in early 2013. Post Comment Private Reply Ignore Thread
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