Complete Genomics is a life sciences company that has developed and commercialized a DNA sequencing platform for human genome sequencing and analysis. This solution combines the company’s proprietary human genome sequencing technology with its informatics and data management software to provide finished variant reports and assemblies at Complete Genomics’ own commercial genome center in Mountain View, California. In March 2013 Complete Genomics was acquired by BGI-Shenzhen, the world’s largest genomics services company. BGI is a 4,000-person company headquartered in Shenzhen, China, that provides comprehensive sequencing and bioinformatics services for commercial science, medical, agricultural, and environmental applications.
In February 2009, Complete Genomics announced that it had sequenced its first human genome and submitted the resulting variant data to the National Center for Biotechnology Information database. Then, in November 2009, Complete Genomics published sequence data for three human genomes in the journal Science. By the end of 2009, Complete Genomics had sequenced 50 human genomes. To date, the company has sequenced more than 20,000 genomes.
The resulting data has supported research in diverse areas such as screening of embryos, detection of genetic relationships, neurology, aging, novel Mendelian disease with neuromuscular and cardiac involvement, eating disorders, Prader-Willi syndrome and autism, ophthalmology, and oncology. In 2014, a collaboration among Radboud University (The Netherlands), Maastricht University Medical Centre (The Netherlands), Central South University (China) and Complete Genomics identified major causes of intellectual disability using whole genome sequencing.
Complete Genomics’ proprietary human genome sequencing technology is optimized for the exclusive study of human DNA, providing assembled sequences and variation files. The technology relies on DNA nanoball sequencing. It is designed to use lower volumes and concentrations of reagents than existing systems. Additionally, Complete Genomics’ proprietary instrumentation allows for greater numbers of base reads per image.
- Specter, Michael (6 January 2014) The Gene Factory The New Yorker, Retrieved 28 October 2014
- Drmanac R, et al.; Sparks, A. B.; Callow, M. J.; Halpern, A. L.; Burns, N. L.; Kermani, B. G.; Carnevali, P.; Nazarenko, I.; Nilsen, G. B.; Yeung, G.; Dahl, F.; Fernandez, A.; Staker, B.; Pant, K. P.; Baccash, J.; Borcherding, A. P.; Brownley, A.; Cedeno, R.; Chen, L.; Chernikoff, D.; Cheung, A.; Chirita, R.; Curson, B.; Ebert, J. C.; Hacker, C. R.; Hartlage, R.; Hauser, B.; Huang, S.; Jiang, Y. et al. (November 2009). "Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays". Science 327 (5961): 78–81. Bibcode:2010Sci...327...78D. doi:10.1126/science.1181498. PMID 19892942.
- Winard R et al. (2014). "In vitro screening of embryos by whole-genome sequencing: now, in the future or never?". Hum Reprod 29 (4): 842–851.
- Li H et al. (2014). "Relationship estimation from whole-genome sequence data". PLoS Genet 10 (1). doi:10.1371/journal.pgen.1004144.
- Su S-Y et al. (2012). "Detection of identity by descent using next-generation whole genome sequencing data". HBMC Bioinformatics. doi:10.1186/1471-2105-13-121.
- Bundo M (2014). "Increased L1 retrotransposition in the neuronal genome in schizophrenia". Neuron 81 (2): 306–313.
- Kai Y et al. (2013). "Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs". Twin Research and Human Genetics 16 (6): 1026–1032.
- Wang K et al. (2013). "Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement". Genome Medicine 5 (7): 67.
- Cui H et al. (2013). "Eating disorder predisposition is associated with ESRRA and HDAC4 mutations". J Clin Invest 123 (11): 4706–4713.
- Schaaf CP et al. (2013). "Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism". Nature Genetics 45: 1405–1408.
- Nishiguchi KM et al. (2012). "Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population". PLoS ONE 7 (7): e41902. doi:10.1371/journal.pone.0041902.
- Ma Y et al. (2012). "Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia". Proc Natl Acad Sci USA 110 (18): 7429–7433.
- Kiel MJ et al. (2012). "Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma". The Journal of Experimental Medicine 209 (9): 1553–1565.
- Molenaar JJ et al. (2012). "Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes". Nature 483: 589–593.
- Turajlic S et al. (2011). "Whole genome sequencing of matched primary and metastatic acral melanomas". Genome Res 22: 196–207. doi:10.1101/gr.125591.111.
- Yokoyama S et al. (2011). "GA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma". Nature 480: 99–103.
- Gilissen C et al. (2014). "Genome sequencing identifies major causes of severe intellectual disability". Nature 511 (7509): 344–347.