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Based on a novel technology employing unchained-base reading on DNA nanoarrays (Drmanac et al., Science 2010), Complete Genomics sequences highly accurate (over 99.999%) genomes and has a highly efficient large-scale, commercial facility capable of sequencing more than 400 genomes per month. The last 300 delivered genomes contained greater than 50x read coverage and diploid calls of over 95% of the genome and the exome. Our fiveyear plan is to sequence hundreds of thousands complete human genomes and be the first company to achieve the $1000 genome.
In addition, we are currently developing an enhancement of our process resulting in clinical-grade genome accuracy including haplotyping. Our sequencing service includes DNA library preparation, sequencing, mapping, assembly, and analysis, as well as various data analysis tools. The data includes easy-to-use lists of annotated genetic variants (SNPs, indels, SNVs, SVs) for each genome. These lists allow scientists to study the genetic basis of any of thousands of different diseases without the cost and labor associated with building, operating, and maintaining large-scale sequencing and computing facilities. Numerous studies with collaborators have been completed and this presentation will show examples of the utility of complete genome sequencing for discovery of novel genes and pathways. The availability of affordable, complete human genome sequencing for hundreds of cases and related controls for each disease of interest--including various types of cancers--promises to revolutionize human biology and medicine and provide the foundation for routine personal genome sequencing. |
