PacBio News: HiFi Consortium, Tertiary Partners, New RNA Kits

November 9, 2023

By Bio-IT World Staff 

November 9, 2023 | Pacific Bioscience made several announcements this week at the American Society of Human Genetics Annual Meeting in Washington D.C. The sequencing company announced a new consortium focused on quantifying the value of HiFi sequencing, launched a family of RNA sequencing kits, and named two new tertiary analysis partners.  

HiFi Solves Consortium

Last week, PacBio announced the creation of the HiFi Solves consortium, a global gathering of researchers from 15 leading genomics research institutions across 11 countries to study the value HiFi-based human genome sequencing may have in clinical research applications and to further our understanding of genetic diseases. These institutions will collaborate to develop and share best practices on data generated from PacBio Revio sequencing systems, with the goal of leveraging the comprehensiveness and completeness of HiFi genomes in human genetics research applications. 

“The launch of Revio has enabled researchers to scale HiFi long-read sequencing at unprecedented levels,” said Christian Henry, President and Chief Executive Officer of PacBio in a statement. “By creating this consortium, we aim to accelerate global adoption of HiFi sequencing in human genomics through the sharing of best practices so that we may potentially offer families an end to their diagnostic odyssey.” 

PacBio HiFi long-read sequencing has the potential to become a single front-line assay for researchers interrogating rare disease cohorts because of its ability to call and phase all classes of variants accurately, unlike other technologies that require multiple assays. Through the HiFi Solves consortium, researchers will study the efficacy of HiFi sequencing in interrogating the many possible genetic mechanisms that underlie rare diseases. 

Participating institutions of the HiFi Solves consortium are: 

  • Bioscientia Institute for Medical Diagnostics (GmbH) (Germany) 

  • Broad Institute of MIT and Harvard (US) 

  • Children’s Hospital of Eastern Ontario (Canada) 

  • Children’s Mercy Kansas City (US) 

  • Chulalongkorn University (Thailand) 

  • Hospital for Sick Children (SickKids, Canada) 

  • i-Lac (Japan) 

  • Karolinska University Hospital and Karolinska Institutet (Sweden) 

  • KK Women's and Children's Hospital (Singapore) 

  • The Max Planck Institute for Molecular Genetics (Germany) 

  • Medizinische Universität Innsbruck (Austria) 

  • National Center for Child Health and Development (Japan) 

  • Radboud University Medical Center (Netherlands) 

  • SciLifeLab (Sweden) 

  • University of Leuven (Belgium) 

Improved Throughput RNA Sequencing Kits

PacBio has begun taking orders for its family of Kinnex RNA kits, which increase throughput for full-length RNA, single-cell RNA, and 16S rRNA sequencing on PacBio’s long-read sequencing systems to enable large-scale studies at a resolution difficult to attain with short-read RNA sequencing. Shipments will begin in December 2023. 

"The new family of Kinnex kits for RNA sequencing are designed to provide customers with cost-effective, end-to-end kitted solutions to support their research," said Henry in a statement about the products. "The Revio system brought scale to HiFi whole genome sequencing. Our customers have asked for the same for RNA sequencing, and these Kinnex kits deliver just that with tens of millions of full-length reads per run. It’s a game changer for the RNA sequencing market." 

The Kinnex kits are based on the MAS-Seq method, which concatenates smaller DNA fragments into longer, HiFi-ready libraries. Short-read sequencing has difficulty covering entire transcripts, while long-read sequencing of one transcript would traditionally result in unused sequencing capacity. With Kinnex, customers can concatenate transcripts into long libraries for HiFi sequencing, increasing throughput and making long-read RNA sequencing more cost effective. 

  • The new Kinnex single-cell RNA kit builds on the existing MAS-Seq for Single Cell 3′ kit, adding additional support of the 10x Genomics 5′ kit and library multiplexing. 

  • The Kinnex full-length RNA kit offers full-length RNA sequencing with abundant information and flexible sample multiplexing. The kit can yield 40 million reads on the Revio system per 25M SMRT cell and 15 million reads on the Sequel II and IIe systems per 8M SMRT cell. Additionally, the end-to-end workflow includes access to PacBio’s SMRT Link software for full-length RNA and isoform data analysis. 

  • Finally, the Kinnex 16S rRNA kit enables extraordinary resolution, higher quality microbiome sequencing at any scale. The kit will yield 60 million reads on the Revio system per 25M SMRT cell and 25 million reads on Sequel II and IIe systems per 8M SMRT cell. With a recommendation of 384-plex per library, this new kit will allow full-length 16S rRNA sequencing at a competitive per-sample cost relative to current standard short read sequencing. 

With the Kinnex kit offerings, Revio will provide customers with the ability to sequence up to 5,200 RNA samples per year for less than $500 per sample, a 16-fold throughput increase in number of samples from what was previously available for PacBio RNA users on the Sequel II and IIe systems. All three Kinnex kits sell for $5,700 each at 12 reactions. 

Tertiary Analysis Partners

Finally, PacBio 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. These new partnerships maximize the 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 in a statement about the partnerships. “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.” 

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.