
PacBio Unveils New Data Analysis Tool for Whole Genome Sequencing; Continues to Up its Game in NGS Market
PacBio has announced the release of the PacBio WGS Variant Pipeline. This new software marks a step towards standardizing the computational analysis of HiFi whole genome sequencing (WGS) data. The pipeline aims to streamline the analysis of diverse variant types such as single-nucleotide polymorphisms, insertions and deletions, structural variants, tandem repeats, segmental duplications, and copy number variants. Furthermore, it offers the crucial ability to provide methylation and phasing data, making it one of the most comprehensive human WGS secondary analysis pipelines available.
Before the release of this pipeline, PacBio users often had to employ multiple bioinformatic tools to analyze HiFi data, a process that could be laborious and time-consuming. The introduction of the PacBio WGS Variant Pipeline now offers a more efficient and supported solution that combines alignment, variant calling, joint calling, and genome annotation data across various platforms. This means researchers can access these tools and data via Amazon Web Services, Google Cloud, Azure, and on-premise high-performance computing solutions.
Christian Henry, President and Chief Executive Officer of PacBio, expressed the company’s commitment to advancing sequencing technologies. He stated, “This mission extends not only to providing our customers game-changing sequencers, but also delivering comprehensive analytical tools to interpret sequencing data.” The PacBio WGS Variant Pipeline represents a significant step forward in achieving this goal. “This is the first and most complete HiFi pipeline that integrates PacBio and third-party tools into a single, high-powered, bioinformatics solution, which will help our customers realize the full power of our Revio system and HiFi data, and allow them to spend more time on biological discovery,” Henry added.
Researchers can access these streamlined workflows through bioinformatics analysis platforms provided by DNAnexus, Form Bio, Terra, and DNAstack. These platforms have been collaboratively assessed by the PacBio and DNAstack computational biology teams, enabling users to execute bundled workflows with ease. Additionally, DNAstack, DNAnexus, and Form Bio offer access to other PacBio bioinformatic workflows, including AAV QC, TRGT, and Paraphase.
PacBio has been highly active on the innovation front in next generation sequencing over the last year. In August the company announced the beginning of commercialization of it Onso Short-Read sequencing system, and the company also acquired Apton Biosystems, the developer of a potentially disruptive short-read sequencer utilizing a proprietary clustering technology to increase throughput. Also in September the company announced that leading automation providers Hamilton, Integra, Revvity and Tecan have created fully automated protocols to prepare samples for sequencing on Revio and Sequel II and IIe systems.