Bluebee, a company driving genomic data-driven medicine, and Pacific Biosciences of California, the leader in long-read sequencing, announced they have integrated the PacBio de novo assembly pipeline onto the Bluebee genomics analysis platform. The integration creates a simplified workflow and fully automated, end-to- end data analysis solution that allows assembly of any size genome, including the human genome. Bluebee’s platform provides a user- friendly environment that does not require specialized bioinformatics knowledge. The solution will be launched next week at the American Society of Human Genetics (ASHG) annual meeting in Orlando, FL.
“We are continually looking at ways we can help people get more knowledge and insights from their genomic data, and this integration of the PacBio de novo assembly pipeline on the Bluebee genomics analysis platform offers precisely that: an end-to-end solution with a guaranteed turn-around time, enabling better planning and improved productivity,” said Hans Cobben, chief executive officer of Bluebee. ”This will address the data analysis burden that many people are faced with, and add both value and convenience to any users of the PacBio de Novo Assembly Pipeline.”
Since parameters can be adjusted within the platform, users can redefine the pipeline, creating a starting point for further pipeline developments and optimizations to fit the purpose of specific use cases.
“With the continuing demand for Single Molecule, Real-Time (SMRT) Sequencing in the genomics community, we are delighted to see this new cloud-based analysis option become available to users of PacBio data,” said Kevin Corcoran, senior vice president of Market Development for PacBio. “The end-to-end solution integrates downstream data analysis in Bluebee’s high- security and regulatory-compliant compute centers for PacBio customers around the world.”
It is now established that most genomes have high sequence complexity, encompassing many repetitive elements, copy number variants, and structural variants. Such complex elements are often very difficult, if not impossible, to resolve using short-read technologies.
SMRT Sequencing is the ideal tool to investigate these genetic complexities, due to its long reads with uniform coverage that allow comprehensive de novo genome assemblies and provide more complete and accurate views of all types of genomic variations. Despite the power of SMRT Sequencing, however, de novo assembly of large genomes still remains a challenge requiring, among other things, very powerful compute resources.
The Bluebee platform was designed with confidential sample information in mind, and thus employs a multi-layered data security approach to ensure an environment that covers the strictest of security controls. The Bluebee platform data centers are compliant with all applicable security and regulatory standards. The compliance standards Bluebee adheres to include:ISO 27001:2013, HIPAA, IGT (NHS, UK), C-Star Level 1, PHIPA & PIPEDA (Canada) and EU Model Clauses (for regional data storage and processing).