MOUNTAIN VIEW, Calif., Jan. 6, 2011 (GLOBE NEWSWIRE) -- Complete Genomics Inc. (Nasdaq:GNOM) announced today that it is providing access to its complete genome sequence data for a family trio from the NHGRI Sample Repository for Human Genetic Research. This trio has also been analyzed as part of the International HapMap Project () and the 1000 Genomes Project (). Designated Yoruba Y117; this family includes the father (NA19239), the mother (NA19238) and an adult female child (NA19240). Researchers can now download this dataset from the Complete Genomics website at .
In each genome Complete Genomics detected over 4.4 million sequence variants. Genome-wide single nucleotide polymorphisms (SNP) concordance with the 1000 Genomes Project data ranges from 99.6 percent to 99.8 percent across the trio. For SNPs detected in the child, Complete Genomics observed a 0.24 percent Mendelian Inheritance error rate indicating 1 error in 300,000 bases.
These genomes were sequenced in Complete Genomics' commercial genome sequencing center, which currently has the capacity to sequence more than 400 genomes per month, enabling rapid completion of large disease studies.
"We are proud to demonstrate the accuracy and reproducibility of our human genome sequencing service using this well-characterized trio, which was also sequenced by the public 1000 Genomes Project," said Complete Genomics Chairman, President and CEO Dr. Clifford Reid. "We encourage the research community to use this dataset to validate our performance, to further improve data analysis and interpretation methods, and also for educational purposes."
Complete Genomics has continued to hone its performance following the launch of its commercial human genome sequencing service in May 2010. For the past three months, the company has delivered data to customers with an average turnaround time of 83 days. Complete Genomics provided more than 40x mapped coverage across each sample, enabling high-confidence calls to typically be made on more than 96 percent of each genome. Genome coverage was also well-balanced; less than 2 percent of typical genomes had 10x or lower coverage.
Complete Genomics is offering the trio data in two download packages, featuring either all of the sequencing results or a subset of the dataset. Researchers can opt to download all of the results, including variant reports - single nucleotide polymorphisms (SNPs), insertions/deletions, copy number variations (CNVs) and structural variations (SVs) - together with the read alignments supporting those calls, as well as coverage information and quality scores. This data package includes all the research-ready data typically provided to Complete Genomics' customers, but does not include the raw reads and mappings. This full-variations dataset can be used to develop and test family-based and other complete genome analyses, benchmark datasets, or compare Complete Genomics' results with other technologies.
In addition, researchers can elect to download just the chromosome 21 subset of the data files. This package provides researchers with a single chromosome sample of the data structure and file formats that Complete Genomics delivers to its customers. This dataset can be used to gain familiarity with Complete Genomics' data; it can also be used to develop data analysis methods and software and analysis scripts, or to test tools and workflows.
The Yoruba
The samples used for this project were B-lymphocyte-derived cell lines obtained from the Coriell Institute for Medical Research from a Yoruba family in Ibadan, Nigeria. The Yoruba are one of the three major ethnic groups in Nigeria and have a population of approximately 40 million. They live primarily in Southwestern Nigeria, Benin and Togo Republics, Cuba, and Brazil. Further information is available at .
About Complete Genomics
Complete Genomics is a life sciences company that has developed and commercialized an innovative DNA sequencing platform. The Complete Genomics Analysis Platform (CGA™ Platform) combines Complete Genomics' proprietary human genome sequencing technology with our advanced informatics and data management software. We offer this solution as an innovative, end-to-end, outsourced service, CGA™ Service, and provide customers with data that is immediately ready to be used for genome-based research. Additional information can be found at .
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CONTACT: Complete Genomics Inc. Jennifer Turcotte Vice President of Marketing (650) 943-2846 jturcotte@completegenomics.com Waggener Edstrom Worldwide Healthcare Practice Lisa Osborne Account Director (202) 261-7806 lisao@waggeneredstrom.com