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J Biomol Tech. 2010 September; 21(3 Suppl): S27.
PMCID: PMC2918084

Complete Human Genome Sequencing for Large-Scale Human Disease Studies



We have developed a third generation DNA sequencing platform capable of delivering complete human genome sequence data at an unprecedented scale and affordable cost. Complete Genomics' sequencing platform is a combination of technology advancements in DNA library preparation, arrays, sequencing assay chemistry, instruments and software (Science 327, 78, 2010 (10.1126/science.1181498)). In recent months, we have developed production instruments with a capacity of greater than 2 Tb per run (equivalent to up to 40x genome coverage per run). These instruments use TDI scanning of 0.7um-pitch DNA nanoarrays–made up of 3 billion spots per 1′x3′ slide–to sequence a 40x genome on a single slide. These technologies have been integrated into a comprehensive system to enable large scale complete human genome sequencing.To date, we have delivered over 50 high-quality, complete human genomes which have helped our collaborators identify mutations causing three different diseases. Our accurate variant calling process provides researchers with an easy-to-use, annotated list of SNPs and indels for each analyzed genome, thus eliminating the many difficulties of dealing with large primary data sets. This affordable, turnkey service will provide human disease researchers with the ability to conduct comprehensive genetic studies of human diseases, and allow complete human genome sequence data to inform new methods of disease prevention and treatment.

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