MOUNTAIN VIEW, Calif.--(BUSINESS WIRE)--DNAnexus, a leader in genome informatics and data management, today announced a collaboration with The Human Genome Sequencing Center (HGSC) at Baylor College of Medicine, a world leader in large-scale sequencing and analysis solutions, to co-develop HgV, the next generation of the HGSC’s Mercury solutions pipeline. HgV is a comprehensive framework for large-scale high-throughput whole genome sequence analysis in the settings of precision medicine research and clinical applications.
The HGSC’s Mercury pipeline is the core data-processing and variant-calling tool for the world’s largest cloud-based genome analysis projects, including the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, the Alzheimer’s Disease Sequencing Project, and the Baylor-Hopkins Center for Mendelian Genomics. This pipeline is used in clinical studies to identify mutations from genomic data to determine the significance of these mutations as a cause of serious disease.
HGSC continues to be at the forefront of technical innovation and bioinformatics development. Partnering with DNAnexus, HGSC’s team of bioinformatics experts have expanded their capability for rapid development and deployment of HgV to the broader research community via the leading cloud-based bioinformatics platform – DNAnexus. HgV is optimized for Illumina X Ten levels of throughput and whole-genome data processing, analytics, and collaboration. Drawing on extensive R&D of high-quality personal genomes and large disease cohorts, this platform will provide an improved alternative to existing methods and multiple protocols for comprehensive whole genomes:
- “Parliamentary” approach to the discovery and evaluation of large, structural variants inaccessible to targeted genome sequencing
- Multi-source functional whole-genome annotation of both protein-coding and non-coding regions
- Aggregation of annotation, phenotype, and variant information in a NoSQL-based extensible and scalable data warehouse
- Integration of heterogeneous library protocols and sequencing platforms, including long-read sequencing and SNP arrays
- Project-specific “Afterburners”, such as variant prioritization for Mendelian Diseases, pedigree sample sets, de novo mutation analysis in trios, cancer, and case/control studies
As the cost of whole genome sequencing (WGS) continues to decline and the quality increases, its use for novel discovery and to identify genetic disorders in the clinic is becoming routine. Although most identified disease-causing variants fall within the exome, WGS can identify non-coding variants and large, structural variants that may contribute to complex and common diseases, especially in cases that have proven elusive to exome analysis.
DNAnexus sits at the forefront of cloud-based data security, compliance and controlled access. By co-developing with DNAnexus, the HGSC can deploy HgV into an investigative environment while leveraging extensive research experience. These efforts include establishing an exceptionally high-quality personal genome for testing, benchmarking and validating protocols, methods and tools. The raw sequence data from multiple platforms have been subject to deep variant calling, trio analysis, whole genome assembly, long-read structural variant analysis, and Mendelian prioritization, generating high-quality variants that can be used for future tool validation. HgV development includes specific emphasis on trackability, versioning and reproducibility to enable seamless transition into a CAP/CLIA environment.
HgV is an open-source and fully configurable platform that will be equipped with pre-configured DNAnexus workflows for various use cases, including optimized speed, sensitivity, and accuracy. Designed with the Illumina HiSeq X Ten platform in mind, it provides a secure and scalable environment for single samples and multi-sample projects, allowing users to focus on interpreting their data rather than local IT infrastructure and data logistics. Through DNAnexus, this Data Commons model serves as a global framework for developers and downstream users to implement new methods, share data, provide feedback, and identify new collaborations.
DNAnexus combines expertise in cloud computing and bioinformatics to create a global network for genomic medicine. DNAnexus provides security, scalability and collaboration for enterprises and organizations that are pursuing genomic-based approaches to health in order to accelerate medical discovery. DNAnexus is supporting customers around the world that are tackling some of the most challenging and exciting opportunities in human health. For more information, please visit: https://dnanexus.com and follow us at @DNAnexus.