About Us

Complete Genomics was established in 2005 with a vision to deliver the highest quality whole human genome sequencing and analysis as a simple outsourced service. Our Complete Genomics Analysis Platform combines Complete Genomics' proprietary human genome sequencing technology with our advanced informatics and data management software. Researchers using our service to conduct large-scale disease projects receive highly accurate genomic data, assembled and annotated, ready for biological interpretation.

As the world’s first company dedicated to large-scale whole human genome sequencing and bioinformatics analysis provided as a service, Complete Genomics frees researchers from purchasing and operating sequencing instruments and computing infrastructures so they can focus on making biological discoveries. Complete Genomics works closely with customers to provide end-to-end project management and analysis tools, services and support to meet their individual needs and advance biological and medical discoveries. By providing highly accurate, affordable large-scale whole human genome sequencing, researchers can increase their understanding of the genetic mechanisms underlying drug responses and complex diseases in order to improve human healthcare.

Our human genome sequencing technology, which is based on our proprietary DNA nanoarrays and ligation-based read technology, is superior to existing commercially available whole human genome sequencing methods in terms of quality, cost and scale. Because we have optimized our technology platform and our operations for the unique requirements of high-throughput whole human genome sequencing, we are able to achieve accuracy levels of 99.9998% at a total cost that is significantly less than the total cost of purchasing and using commercially available DNA sequencing instruments.

Our customers use our service in support of Mendelian disease research, family studies, and oncology work –sequencing tumor-normal pairs in particular. Some of the published research includes the following:

• University of Amsterdam published the most comprehensive genomic analysis of neuroblastoma to date, and the largest whole-genome survey of a single cancer type, comparing 87 tumor-normal pairs derived from untreated neuroblastoma patients with tumors at different clinical stages¹. A substantial number of somatic copy number and structural variations (SVs) were found that appeared to affect genes, suggesting these mutations may play an important role in the cancer’s development.
• Genentech produced a detailed picture of the mutations that occurred in a non-small cell lung cancer genome². They succeeded in identifying 50,000 mutations, which is more than had been seen before. This was equivalent to one mutation for every three cigarettes smoked by the subject.
• The Institute for Systems Biology identified the disease-causing gene in Miller syndrome by sequencing just two parents and their two affected children³.
• UTSW solved a perplexing case history of an 11-month-old child with an LDL-C of 837, which is normally caused by a missing protein easily detected through a blood test. The blood test had failed, indicating that the child was not missing the required protein⁴. However, the protein in the blood was from the mother’s milk. Sequencing succeeded in confirming that the protein was indeed missing.
• Erasmus Medical Center and its collaborators sequenced a number of families; Genomes from family #5 were sequenced by Complete Genomics, 2 of these members are affected by an autosomal-recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth and using the sequence data from Complete Genomics they were able to identify the cause⁵. Authors speculate that IL11 or other components of gp130 signaling could be applied therapeutically to prevent suture recurrence of craniosynostosis after surgery.

1.Molenaar et al. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature (2012) | doi: 10.1038/nature10910.

2. Lee et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465, 473-477 (27 May 2010) | doi:10.1038/nature09004.

3. Roach et al. Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing. Science 30 April 2010 328: 636-639.

4. Rios et al. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia Hum. Mol. Genet. (12 Aug 2010) 19 (22): 4313-4318. doi: 10.1093/hmg/ddq352.

5. Nieminen et al. Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth. AJHG (2011), doi:10.1016/j.ajhg.2011.05.024.