MOUNTAIN VIEW, Calif. Feb. 6, 2009 Complete Genomics, Inc. released proof-of-concept (PoC) data for its human genome sequencing technology for the first time yesterday evening. The analysis results were reviewed by Dr. Clifford Reid, Complete Genomics chairman, president and CEO, during his presentation at the annual Advances in Genome Biology and Technology Meeting held at the Marco Island Marriott Beach Resort, Marco Island, Fla.
Complete Genomics successfully sequenced a Caucasian HapMap sample (Coriell catalog # NA07022; cell line DNA), generating 91x average read coverage of the genome in a matter of days.
This represents the first human genome sequence produced with a third-generation technology and the work was conducted in-house at Complete Genomics' genome center.
Complete Genomics' system delivered unprecedented throughput, producing 254 Gigabases (Gb) of mapped data (reads), which is the most reported for one human genome.
This technology also demonstrated an average run rate of more than 70 billion mapped bases (70 Gb) per run or 8.8 Gb per machine run per day. The entire sequencing process required nine machine runs with a single run taking just eight days. Furthermore, this analysis was conducted on data generated by Complete Genomics' research and development sequencers; the company's production throughput is expected to increase three fold (up to 200 Gb per run) following its commercial launch in June 2009.
"We were able to make high-confidence base calls for 92 percent of the genome," said Dr. Rade Drmanac, chief scientific officer at Complete Genomics. "As expected, the 8 percent that we did not call included long repeats and duplications, which are difficult for all short-read technologies to sequence. We were able to call alleles for both parental chromosomes for 91 percent of the genome. Sequencing this remaining fraction of DNA will require our Long Fragment Read (LFR) technology additio
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