Complete Genomics Expands CGA Tools Software Suite to Accelerate Biological Discovery From Complete Human Genome Sequencing Data
MOUNTAIN VIEW, Calif.–(BUSINESS WIRE)–Complete Genomics Inc., a life sciences company focused on human genome sequencing, today announced that it has expanded its suite of Complete Genomics Analysis Tools (CGA™ Tools) to enable customers to more quickly and easily interpret the genomic data it delivers to them. CGA Tools is open source software which includes both multi-genome comparison and format conversion tools.
With the introduction of this new version of CGA Tools, researchers can easily compare data and results from multiple genomes delivered by Complete Genomics. This advance could enable them to find potential somatic mutations in a tumor-normal comparison as part of a cancer study or discover differences between multiple genomes such as variants specific to a disease, family, or condition.
In addition, CGA Tools contains a custom annotation tool which allows customers to merge a variant file with another file containing user-specified annotations. This provides researchers with a method of filtering the data easily and allows them to focus on the regions that are most important for the study or the individual sample.
Complete Genomics offers its customers an innovative, end-to-end complete human genome sequencing and analysis solution called the Complete Genomics Analysis Service (CGA™ Service). Researchers simply ship their DNA samples to Complete Genomics, which performs quality control, library construction, complete human genome sequencing and a comprehensive analysis of the samples. The company uses its own analysis software to identify key variants in each genome. It then accesses publicly-available variant databases and annotates the data, providing its customers with research-ready data for biological interpretation and discovery.
The delivered results include assembled sequences and a detailed description of all the loci where the sample genome differed from the reference human genome. In addition to sequence variants, annotation files are provided which indicate the called sequences at sites of known polymorphisms and in the coding regions of known genes and microRNAs, and they also include the associated novelty rates. Functional changes categorized by transcripts are also provided. Supporting de novo assemblies for each of the called variations permit a detailed investigation of the evidence underlying each called allele.
By delivering research-ready data and providing purpose-built analytical tools, Complete Genomics allows its customers to significantly reduce their investments in expensive computing hardware and analysis software. The company plans to continue to introduce additional CGA Tools over the coming months.
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. www.completegenomics.com
