Complete Genomics sequenced a patient's lung tumor and normal tissue to detect somatic mutations and structural variations. The study found over 50,000 high-confidence single nucleotide variations, revealing an estimated genome-wide somatic mutation rate of 17.7 per Mb.
Researchers at Institute for Systems Biology use Complete Genomics' service to sequence a family's genomes and identify genetic variations linked to Miller syndrome. The study confirms the involvement of two genes, DHODH and DNAH5, in causing the disorder, providing valuable insights into its causes.
The company's proprietary platform enables efficient imaging with low reagent consumption, generating high-quality diploid base calls in up to 95% of the genomes sequenced. The approach identifies 3.2 million to 4.5 million sequence variants per genome processed.
Complete Genomics successfully sequenced a Caucasian HapMap sample, generating 91x average read coverage of the genome in a matter of days. The company's system delivered unprecedented throughput, producing 254 Gigabases (Gb) of mapped data, and demonstrated an average run rate of over 70 billion mapped bases per run.
The company plans to sequence 1,000 genomes in 2009 and 20,000 in 2010, with a goal of analyzing 1 million genomes over the next five years. This will enable researchers to study disease pathways comprehensively and cost-effectively, driving personalized medicine forward.