Many genes central to human disease research sit in regions of the genome that are complex and difficult to sequence. Repeat expansions, genes with highly similar pseudogenes, and loci where methylation influences disease biology often fall outside what standard short-read workflows can reliably resolve. FMR1, C9orf72, and SMN1 belong to this group, along with a growing number of genes linked to spinocerebellar ataxia. To characterize them, many laboratories still depend on a mix of Southern blots, repeat-primed PCR, and capillary electrophoresis.
Targeted long-read sequencing is steadily changing that picture. More researchers are turning to PureTarget panels to study these regions with HiFi sequencing, and the coming months bring several ways to see that work up close, including an upcoming webinar, to hear from the laboratories behind it and apply the approach to new projects with our PacBio SMRT grant program.
Register for the webinar Apply for the PureTarget SMRT grant
A single PCR-free workflow for complex genes
PureTarget uses CRISPR-Cas9 to enrich regions of interest without amplification, so reads are free of PCR errors and the size bias that can complicate repeat sizing. Because DNA stays in its native state, a single HiFi run captures repeat length, repeat sequence, mosaicism, and methylation together. The repeat expansion panel covers 38 targets relevant to neurodegenerative disease research, the carrier panel brings together 12 challenging genes including FMR1, SMN1, and F8, and custom designs extend the approach to additional regions.
This breadth allows laboratories to replace several legacy methods with one assay, reducing the validations, training, and handoffs that come with maintaining a separate test for each gene. It has also made PureTarget a growing part of rare disease research. The Molecular Genetics Unit at CHU Nîmes went from installation to routine rare disease use in about three months, moving from gene-by-gene fragment analysis and PCR-based assays to a single PureTarget workflow on the Vega system that now spans multiple genes associated with ataxia and ALS.
The 2026 PureTarget SMRT Grant
Promising research ideas often need only the right technology to move forward. For many years, the PacBio SMRT Grant program has helped scientists pursue new questions by providing free, highly accurate sequencing, with more than 20 grants awarded to date. This year, the program turns its focus to challenging genomic regions. Applications for the 2026 PureTarget SMRT Grant are open from October 19 through December 4, 2026, with the selected project receiving support for free PureTarget library preparation, including DNA extraction as needed, and sequencing on the Vega system with SPRQ-Nx chemistry.
This grant is well suited to projects centered on regions that have been difficult to study with other methods. That might include sizing and sequencing repeat expansions across a neurodegenerative disease cohort, characterizing carrier genes complicated by pseudogenes or structural variation, or studying somatic mosaicism in repeat expansions across tissues or over time. The application is short, with a proposal of 100 words or fewer, and researchers at every career stage are encouraged to apply.
Real-world experiences with PureTarget in a customer webinar
For those who are new to PureTarget, there is real value in hearing how a method performs inside a working laboratory. Our November customer webinar offers an opportunity to hear directly from Hermione Ugolini at University College London and Ben Lundie, PhD from Queensland Health about how PureTarget is working for them in practice. Each will share their research and results, along with practical insights into applying PCR-free targeted HiFi sequencing to difficult genomic regions.
The conversation will also look beyond the first run, covering how these laboratories have used PureTarget to consolidate multiple traditional assays into one approach and what they have learned about optimizing and scaling the workflow as sample volumes grow. Two sessions are scheduled to accommodate audiences across the world, and both close with a live Q&A where attendees can bring their own questions to the speakers and PacBio experts. For laboratories weighing targeted long-read sequencing, as well as those already underway, it is a chance to learn from peers who have worked through many of the same decisions.
Connecting with the community at ASHG and AMP
Finally, conference season offers a chance to step away from the bench and compare notes with others working on the same hard problems. At ASHG 2026 in Montréal, PacBio and researchers from MGZ Medical Genetics Center will share how PureTarget and SPRQ-Nx chemistry on the Revio system are helping consolidate complex testing into a single workflow. The PacBio booth will be a place to continue those conversations, whether the questions center on panel content, custom designs, or what implementation looks like day to day.
The discussion carries into AMP 2026 in Seattle, where molecular laboratory professionals gather to talk through the practical side of bringing new methods into their workflows. A PacBio workshop there will explore how PureTarget for repeat expansions and other difficult regions can work alongside rapid HiFi whole genome sequencing, and the booth offers another opportunity to meet the team and connect with other researchers exploring targeted long-read sequencing.
Growing momentum for targeted long-read sequencing
From the SMRT Grant and customer webinar to conversations at ASHG and AMP, these activities ahead reflect a broader shift in how laboratories approach complex genomic regions. Interest in targeted long-read solutions continues to grow as more groups see what a single PCR-free workflow can reveal in genes that once required several specialized assays, and as laboratories like CHU Nîmes show how quickly that workflow can become part of routine research.
These opportunities offer a way to learn from that experience and to help shape what comes next in your research.
Register for the webinar Apply for the PureTarget SMRT grant