A year in review: HiFi in the Headline

It’s 2026 and there’s no better time than now to look back at 2025 and celebrate its meaningful impact in genomics. In 2025, PacBio focused on driving technical advances, expanding access to HiFi sequencing, and supporting the people using it to answer some of genomics’ most important questions.

Our ‘2025 wrapped’ includes chemistry advances, growing momentum for clinical research, and research progress with real-world impact.

Throughout the year, momentum grew around the use of HiFi sequencing in settings where accuracy and reliability matter most. A key example of this progress is the work from Radboudumc, which shared results demonstrating how HiFi sequencing identified 93% of pathogenic variants in a study of 100 rare disease patient samples, underscoring their commitment to sequencing 5,000 genomes to help advance rare disease diagnostics.

Additional milestones multiplied this forward-looking shift. Berry Genomics employed a HiFi sequencing assay for Thalassemia in China . Children’s Mercy Kansas City implemented HiFi sequencing as a single assay to help accelerate answers for pediatric patients with suspected genetic disease. And, Athena Diagnostics adopted PureTarget technology to help improve testing for ataxia and movement disorders . Collectively, each of these efforts are great examples of how HiFi sequencing is being used to actively inform decisions that will shape the future of clinical genomics.

In 2025, the launch of evolved PureTarget products gave researchers a broader set of targeted sequencing solutions designed to meet the needs of high-throughput and clinically relevant research. Enhancements included the introduction of a carrier screening panel, an upgraded repeat expansion panel, and support for fully custom panels.

These updates show a growing demand for targeted assays that can handle challenging genomic regions while remaining scalable and adaptable. The carrier panel expanded access to genes that are difficult to assess with short reads, while improvements to the repeat expansion panel addressed disorders where precise sizing and structure matter. Custom panels have given researchers the flexibility to tailor assays for their specific research needs, like genome editing . These updates position PureTarget as a smart choice for higher-throughput workflows and research that demands greater consistency and scale in 2026.

One of the most far-reaching launches of 2025 was the Ampli-Fi protocol , which opens the door to HiFi sequencing from ultra-low DNA inputs. By enabling high-quality sequencing from as little as 1 ng of DNA, Ampli-Fi makes HiFi technology accessible for samples that were previously out of reach.

This development had immediate implications across research areas where sample quantity or quality is limited. In cancer research, Ampli-Fi makes it possible to use FFPE tissue with HiFi sequencing, opening up access to a massive collection of samples with a new level of resolution. In newborn screening, the protocol shows promise for working with dried blood spots , offering a potential path for rare disease discovery and clinical research in ways that weren’t possible before. Together, these advances give researchers lower input requirements so that they can unlock new questions and applications without compromising data quality.

Yet another major moment in 2025 was a group effort that brought an all-in-one multiomic assay to life with the launch of Fiber-seq in partnership with EpiCypher and the CUTANA Fiber-seq kit. This workflow combines HiFi sequencing with Fiber-seq to deliver an integrated view of the genetic and epigenetic characteristics of individual DNA molecules.

By capturing information on chromatin accessibility, nucleosome positioning, and DNA sequence simultaneously, Fiber-seq offers researchers a powerful way to study genome regulation without stitching together multiple assays. This launch marked an important step toward more unified multiomic approaches that preserve long-range context.

PacBio also announced SPRQ-Nx in 2025, further accelerating the value of the Revio and Vega platforms for researchers. SPRQ-Nx is an advanced chemistry solution that allows users to be able to reuse SMRT Cells. It was designed to lower genome costs while expanding support for multiomic applications, helping researchers scale studies without sacrificing performance. This announcement is a massive step toward broadening access to HiFi sequencing and deepening the insights across genomic research.

Large-scale genomics projects also took center stage, showing how HiFi sequencing performs when applied across thousands of genomes. The first All of Us paper using large-scale, population-level analysis with HiFi sequencing was published, demonstrating the unique ability of HiFi to uncover disease-relevant variants that can’t be reached by short reads. Similarly, the first major publication from the HiFi Solves EMEA consortium showcased the potential of HiFi genomes to resolve clinically relevant variants across diverse populations. These studies have provided tangible evidence that long-read accuracy and completeness can make a meaningful difference at scale.

When it comes down to it, everything that was accomplished in 2025 was because of, and for, the researchers and organizations using PacBio technology. Through expanded SMRT Grant programs to help new projects get started, amplification of customer success stories to share real world experiences, and face to face connections through conferences like PRISM , we strive to keep directly connected to the scientists working at the forefront of genomics.

The New Year is here, and we can’t wait to see what we can build together with the power of HiFi sequencing. Up first: PAG 2026 is off to a great start with a clear focus to open up new areas of discovery.

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