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PacBio Enables Rare and Inherited Disease Research by Adding Tertiary Analysis Partners to PacBio Compatible

Double helix structure of DNA.
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PacBio (NASDAQ: PACB) announced the addition of two tertiary analysis partners to PacBio Compatible. Geneyx and Golden Helix will enable PacBio customers to leverage PacBio HiFi data for disease research with the Revio and Sequel II/IIe sequencing systems.

Interpreting sequencing data generally involves primary, secondary, and tertiary analysis. Tertiary analysis powers knowledge discovery from variants, usually including annotation, filtering, and data visualization, and can provide further support for phasing and analyzing complex events such as structural variation. These new partnerships maximize value of HiFi data and complete the full end-to-end workflow for PacBio customers.

“Primary and secondary analysis solutions are available through our SMRT Analysis Software, the recently released PacBio WGS Variant Pipeline, and analysis partners such as GoogleHealth, all of which provide the best quality of data to power biological interpretation,” said Jeff Eidel, Chief Commercial Officer at PacBio. “Through our new partnerships with Geneyx and Golden Helix, researchers can accelerate their discoveries and find solutions from sample to answer across their HiFi-based workflows.”

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Publications show that HiFi sequencing finds more structural variants (SVs) than short reads. 1 SVs are important as they account for much of the genetic diversity between humans and have been shown to be associated with disease pathogenesis. Our tertiary analysis partners can further accelerate customers’ interpretation of this important variant class and enable PacBio customers to create a biological interpretation more 1 Ebert, P. et al. (2021) Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. (available here: https://pubmed.ncbi.nlm.nih.gov/33632895/) easily from the underlying genomic content of their samples, maximizing the impact of PacBio sequencing on human health.

“Geneyx takes great pride in its partnership with PacBio. This collaboration leverages our HiFi sequencing data analysis expertise, enabling us to provide a comprehensive solution for long-read whole genome sequencing analysis. Our specialized tools, including phasing and methylation analysis, are tailored to PacBio data, simplify the bioinformatics process, and ensure accurate variant annotation and classification,” said David Yizhar, Chief Executive Officer of Geneyx. “Geneyx serves a diverse global user base, including PacBio customers. Together, our efforts will advance the realms of research.”

“Long-read sequencing has gained considerable popularity among our customers. Our clients are looking for reliable identification of rare variances, improved insights into challenging genomic regions, and top-notch calls for structural variants,” said Dr. Andreas Scherer, President and Chief Executive Officer of Golden Helix Inc. “We’re excited to collaborate with PacBio to offer a comprehensive solution to the market.”

PacBio Compatible works with a wide range of organizations to ensure customers can find verified products that are complementary to their workflows for PacBio sequencing. Partners collaborate closely with PacBio scientists to provide seamless integration and support for customers who are just starting out with PacBio or expanding their current capabilities.