Complete Genomics' Service Approach
Complete Genomics provides the highest quality whole human genome sequencing and analysis as a simple outsourced service. Dedicated solely to human DNA sequencing, we eliminate the need to purchase and operate DNA sequencing instruments. With Complete Genomics’ service, researchers can truly focus on biological discovery to further understand the genetic basis of drug response and human disease.
Accurate. Comprehensive. Reliable.
- Most accurate, most comprehensive data results – Leading to faster biological interpretation
- Easy-to-use service – End-to-end project management; trusted informatics support
- Highly scalable and reliable service – Sequence very large projects with shorter time-to-results
- Outsourced solution – No capital expenditure required
Available Services:
- Standard Sequencing – Provides sequencing for human DNA samples
- Cancer Sequencing – Provides sequencing of tumor and matched normal samples with algorithms tuned for heterogeneous and aneuploid samples
- Reanalysis – Uses the latest Complete Genomics Analysis Pipeline to reanalyze previously sequenced samples
Service Details
All aspects of our sequencing service are built around our proprietary sequencing instrument and robust computing infrastructure.
The Standard and Cancer Sequencing services include sample QC, library preparation, DNA sequencing, and data assembly and analysis. A dedicated project manager is assigned to each sequencing project to provide guidance on how to best prepare and send samples, and to provide status updates throughout the duration of the project. The final assembled and analyzed results are provided as a complete data package that includes comprehensive variant information for somatic and germline mutations, informative scores and annotations. We provide CGA ToolsTM, an open source software package, to help you with further downstream analysis. We have also partnered with numerous third-party software providers who also provide tools for analysis.
The Most Accurate Data
Complete Genomics is continually evolving our biochemistry and Analysis Pipeline to improve call accuracy. Reflective of this effort is the increased accuracy achieved in Analysis Pipeline version 2.0, where replicate discordance analysis of high-confidence variants detected for Yoruba female NA19240 yielded an error rate of ~3 in 1 Mb. In addition, the most recent Mendelian Trio analysis for SNV calls shows a concordance of >99.9998% across all called non-repetitive regions of the genome (the location of most genes, for example), and with the addition of indel and substitution calls, the trio concordance is 99.9997% in non-repetitive regions. In addition, our informative variant scores allow to further increase accuracy by balancing sensitivity and specificity.
A recent paper in Nature Biotechnology, Lam et al.1, reported on the results of sequencing the same human genome at an average coverage depth of 76x using two different sequencing technologies. The authors compared the accuracy and sensitivity of the results obtained using technology from a leading instrument provider and from Complete Genomics. The authors concluded that Complete Genomics data is more accurate than the leading vendor. Read our blog post, Comparing Performance Data – Taking a Different Perspective, to get a different view on the analysis comparing the accuracy and sensitivity of the data sets.
The Most Comprehensive Service
All our sequencing services include a dedicated project manager to ensure a successful project and delivery of optimal results to our customers. Our project managers provide expert assistance and real-time updates on the status of your sequencing project.
We provide every customer with extensive training and educational resources to help maximize productivity and proficiency with our data. Our expert bioinformatics support teams are a valuable resource for you, at all phases of your study.
1. Lam et al. Performance Comparison of Whole-genome Sequencing Platforms. Nature Biotechnology 30, 78–82, 2012.