PacBio announced the availability of PacBio WGS Variant Pipeline -- a complete, standardized computational method for HiFi whole genome sequencing (WGS) data analysis. The new software pipeline will enable customers to resolve many different variant types, including single-nucleotide polymorphisms, insertions and deletions, structural variants, tandem repeats, segmental duplications, and copy number variants, in addition to providing methylation and phasing data, all in a single bioinformatic solution -- making it the most complete human WGS secondary analysis pipeline available. The single computational workflow integrates PacBio and third-party tools, including TRGT, Paraphase, and Google DeepVariant, in an intuitive user interface, offering customers a best-practice for HiFi WGS analysis.

Previously, PacBio customers would need to use multiple bioinformatic tools to analyze HiFi data. With the new PacBio WGS Variant Pipeline, PacBio offers a streamlined and supported tool to access alignment, variant calling, joint calling, and genome annotation data across Amazon Web Services, Google Cloud, Azure, and on-premise high performance computing solutions. These workflows are accessible through bioinformatics analysis platforms from DNAnexus, Form Bio, Terra, and DNAstack.

These platforms have been vetted by both the PacBio and DNAstack computational biology teams and allow users to runled workflows in a turn-key manner. DNAstack, DNAnexus and Form Bio also enable users to access other PacBio bioinformatic workflows, including AAV QC, TRGT and Paraphase. PacBio WGS Variant Pipeline will be available through GitHub.