Complete Genomics announces CNV and SV results as part of complete human genome sequencing service

Complete Genomics Inc. (Nasdaq:GNOM) announced today that its customers will now receive copy number variation (CNV) and structural variation (SV) results as part of the CGA™ Service. This new enhancement includes additional types of variation data including quantitative, large-scale copy number measurements and larger inter- and intrachromosomal rearrangements. This latest advance provides customers with further insights into the genetic underpinnings of human diseases, with a particular focus on cancer. By expanding the range of genetic changes that are reported, Complete Genomics will help the research community advance its understanding of the impact of those changes on cancer and ultimately tackle the many challenges that it presents.

The CGA™ Service, an end-to-end, outsourced complete human genome sequencing service, provides customers with high-quality raw data and research-ready results from at least 40 times coverage of the complete human reference genome. CGA Service now reports CNV and SV data in addition to small variants, including single nucleotide polymorphisms (SNPs) and small insertions/deletions that were previously provided in the human genome sequencing results delivered by Complete Genomics. CGA Service also provides a comprehensive set of rich annotations for all variation types that allow researchers to assess the biological impact of these DNA alterations.

"Our goal is to accelerate biological discovery by continually refining the data analysis portion of our human genome sequencing service. While other companies can sequence human genomes, we believe that they cannot rival the breadth and richness of the variant reports and annotation files that we provide," said Dr. Clifford Reid, chairman, president and CEO of Complete Genomics.

"For the last 500 complete human genomes we've sequenced, an average of over 98 percent of the genome was read at 10-fold or greater coverage. In addition, our software made high confidence calls of an average of over 95 percent of the genome and over 94 percent of the exome," he added.

Earlier this year, Complete Genomics enrolled several early adopters of its technology service in an alpha program whereby those customers gained insight into the methodologies used to derive the CNV and SV results and received early access to that data.

Joke Reumers, a postdoctoral researcher in Diether Lambrechts' group at the Flanders Institute of Biotechnology (VIB), who participated in the program, said, "The results we received as part of the alpha program were verified by other external analysis pipelines and SNP array data. We saw high concordance with our other data, and were pleased with the high-quality CNV and SV data that Complete Genomics provided. This high-quality sequencing-based CNV analysis adds a rich new dimension to whole genome sequencing."