We just wrapped up the European Society of Human Genetics (ESHG) Conference in Milan Italy, surrounded by researchers, collaborators, and a shared focus on the future of human genomics. From packed sessions to hallway conversations, it was a great chance to connect – and we had some exciting news to share while we were at it.
At our satellite symposium, we announced the roadmap for the PureTarget portfolio, including two new panels – an updated repeat expansion panel and a new carrier screening panel – plus a 96-plex automation kit and a full software pipeline for carrier screening. Together, these tools streamline legacy assays into one efficient, high-throughput workflow to provide more value for key applications in clinical and diagnostic research and carrier screening. Built on the foundation of the original PureTarget panel and our Tandem Repeat Genotyping Tool (TRGT), the new release will expand on the already widely adopted solution for detecting repeat expansions in neuromuscular disorders.
With this update, users can capture more “dark” genes, reduce costs, and enjoy a fast and easy workflow, ideal for labs looking to scale. Nanobind extraction kits enable more sample types including blood and saliva, and when run on the Revio system with SPRQ chemistry, the workflow delivers 3–4x higher coverage with up to 96 samples per run. At 96-plex, a single Revio can process nearly 100,000 PureTarget samples in one year. Vega system users can scale up to 48-plex per run, offering robust throughput for every lab size.
| Automated | Manual | |
|---|---|---|
| Input DNA | 1–1.5 µg | 1–4 µg |
| Sample types | Blood, saliva, cell lines | Nanobind cell line, blood (RBC-lysis) |
| Library prep time | 16 hrs for 96 samples | 8 hrs for 24 samples |
| Samples/SMRT Cell | 96 on Revio, 384 per run | 8-48 on Revio and Vega |
A streamlined assay for challenging carrier targets
Among the most valuable features of the upcoming release is the new carrier panel, purpose-built to tackle a group of 12 difficult-to-genotype genes that are commonly analyzed using legacy techniques like triplet-primed PCR, long-range PCR, qPCR, MLPA, or Sanger sequencing. These genes present major hurdles in traditional workflows, often requiring multiple assays to fully resolve.
The new PureTarget carrier panel aims to consolidate these tests into one high-resolution, high-throughput solution. It serves as a powerful frontline assay that can be run in parallel with routine short-read panels, ensuring comprehensive detection of complex variants that may otherwise go unnoticed or require expensive follow up analysis. By offering long-read capabilities and preserving methylation and structural variation information, PureTarget brings exceptional clarity to complex regions.
Extended repeat expansion coverage with 38 targets
The upcoming update also boosts the capabilities of the repeat expansion panel, expanding from 20 to 38 target genes. These additional genes associated with tandem repeat disorders offer broader clinical relevance and new avenues for discovery. This includes new targets for Spinocerebellar ataxia and introduces genes linked to disorders not previously covered, like Creutzfeldt-Jakob disease.
As with the original release, the panel uses TRGT for comprehensive genotyping and visualization. Researchers can view allele-specific methylation patterns, precisely measure expansions, and identify interruption sequences or non-canonical repeat motifs, all in one streamlined workflow. The expanded panel maintains the full analytical power of its predecessor while opening new possibilities for clinical and translational research, or large-scale population screening.
Tailor-made insights with custom panels
For labs with specialized needs, PureTarget will also offer recommendations for building customized panels. Users can add targets to existing panels with PacBio-recommended design tools and protocol modifications. Some trailblazing customers are already running custom PureTarget panels to quality control engineered cell lines or to add targets with interesting methylation signatures. Another useful application of custom panels is to consolidate targets that are commonly subject to confirmatory testing into a single reflex panel. With the high depth of coverage from PureTarget on Revio with SPRQ chemistry, it may even be possible to sequence fresh frozen tumor samples to estimate minor allele frequencies.
One such trailblazing example comes from the Transgenic Animal Model Core at the University of Michigan run by Zachary Freeman. Freeman develops transgenic mouse and rat models using CRISPR/Cas9-mediated genome editing for diverse academic and industry researchers. A critical aspect of his work is ensuring the desirable on-target edits occur and characterizing undesirable off-target edits and mosaicism in the engineered cells. Freeman is leveraging PureTarget library prep in his QC pipeline after a successful pilot study that compared PureTarget libraries sequenced on PacBio to other long-read sequencing approaches and PCR-based targeting methods. Presented in a poster last month at the 2025 Transgenic Technology Conference in Zurich, the PureTarget workflow allowed them to sequence 12 samples on a single flow cell, achieving sample-level coverage between 150X and 2000X. This depth was more than sufficient to resolve the Rosa26 locus in transgenic rodents, while significantly reducing both the cost per sample and off-target sequencing. The accuracy of the data, enabled by the PCR-free PureTarget library prep and HiFi sequencing, enables an unbiased and precise view of the true genome edits.
Automation, workflow simplicity, and an integrated software ecosystem
Ease of use and accessibility are central to this upcoming release. Starting with DNA extraction, using Nanobind kits compatible with blood and saliva as well as third-party extraction kits like QIAsymphony, users can rely on a simple and automatable library preparation that takes just 1–1.5 days. High-throughput labs can now leverage the automation kit for 96-plex sequencing on the Revio system or 48-plex on the Vega system, with the Revio SPRQ chemistry delivering increased coverage for even greater confidence in results.
PacBio supports this workflow with a fully integrated software ecosystem. A new PureTarget carrier pipeline will be available in the DNAnexus marketplace as well as through GitHub for flexible deployment to other cloud platforms. SMRT Link will incorporate an updated repeat expansion analysis and a target enrichment workflow, with the TRGT tool also available at the command line for more tech-savvy users. Additionally, PacBio compatible partners Varvis and Golden Helix offer seamless integration of variant calling with their variant interpretation tools, ensuring quick turnaround from raw data to clinical research insights.
Demonstrated success across the field
From academic research to commercial labs, we’re already seeing the real-world impact of PureTarget. Customers like Quest Diagnostics, Myriad Genetics, and Azenta Life Sciences have shared their enthusiasm at our PRISM events this spring and, most recently, this past weekend in Milan. At our ESHG Satellite Symposium, Dr. Katharina Lackner, a post-doctoral researcher at the Institute of Human Genetics at the Medical University of Innsbruck, Austria, discussed her team’s validation of PureTarget. The new panel will enable them to eventually retire more than a dozen legacy methods like long-range PCR, repeat-primed PCR and southern blots, and offer assays for new targets like C9orf72. Having received early access to the updated PureTarget panels, Innsbruck is already seeing encouraging results that underscore the potential of this technology to streamline their lab operations and expand their analysis to previously unexamined targets. She also shared their experience in updating the workflow to Revio with SPRQ chemistry, and the resulting boost in coverage, which benefits challenging targets like RFC1.
These firsthand accounts, alongside broader momentum across the genomics community, signal a growing confidence in PureTarget as a best-in-class solution for studying complex genetic variation. The promise of these early successes is not only technical, it also speaks to the potential of PureTarget to transform how clinical research is conducted, paving the way for streamlined screening workflows, and ultimately, more precise results.
Shaping the future of clinical research
As the PureTarget portfolio grows, so too does its potential to revolutionize clinical research into repeat expansion disorders. The enhanced panels, automation solutions, and robust software ecosystem are designed to scale with the needs of today’s genomics labs, delivering comprehensive, cost-effective, and easy-to-use tools for the most challenging genetic questions.
We’re excited to see the impact this expanded panel will have in enabling more researchers to study the genetic underpinnings of disease, contributing to the identification of high-risk carriers with greater accuracy, and ultimately drive better outcomes in human health.
To learn more about how PureTarget can transform your clinical research workflow, read the brochure and talk to a PacBio expert today.