At PacBio, we’re celebrating DNA Day with excitement and appreciation—not just for what DNA is, but for how far we’ve come in decoding it. Each year on April 25, DNA Day commemorates two milestones: the discovery of the double helix structure in 1953 by Watson, Crick, Wilkins, and Franklin1, and the completion of the Human Genome Project in 20032. These moments changed science forever. They sparked a revolution in genomics, opening the door to new ways of understanding life, health, and disease.
But while the Human Genome Project was declared complete over 20 years ago, it wasn’t the full story.
Today, we’re proud that PacBio HiFi long-read sequencing helped close the final chapters. With the Telomere-to-Telomere (T2T) Consortium, researchers recently filled in the missing 8% of the human genome3. This included regions full of repeats, complexity, and mystery. And they didn’t stop there: the Y chromosome, long considered nearly impossible to fully assemble, has now also been sequenced from end to end thanks to our long, accurate HiFi reads4. This level of completeness for a gapless human genome is only possible with the power of long-read sequencing.
Why? Because no matter how complex the project, there’s HiFi for that.
When you have the most complete, most accurate sequencing data, the possibilities open wide. That’s what HiFi long-read sequencing is all about—equipping scientists with the clarity and confidence they need to ask bigger questions, solve harder problems, and drive discovery forward across every field of genomics.
Why researchers are choosing HiFi long-read sequencing over shortcuts
At its core, HiFi long-read sequencing is about accuracy and giving scientists the power to see more, resolve complexity, and make confident discoveries across the entire landscape of genomics. That’s why researchers in every field, from cancer biology to agricultural science, are turning to HiFi reads to get the most complete, accurate picture of DNA and RNA.
With long, highly accurate reads, PacBio technology enables access to regions of the genome that are often hidden from view – repetitive sequences, complex structural variants, phased haplotypes, and more. And recent advancements have only expanded the reach of HiFi. New technology like SPRQ chemistry boosts data output and unlocks new layers of epigenetic information by integrating applications like Fiber-seq5, which uses 6mA markers to map chromatin accessibility.
HiFi sequencing is also reaching more sample types than ever before. With the Ampli Fi workflow, researchers can now generate high-quality data from ultra-low DNA input and sequence limited or degraded samples that previously seemed out of reach. And for some of the most notoriously difficult regions of the genome – repeat expansions – HiFi now brings a powerful solution. The PureTarget repeat expansion panel enables comprehensive genotyping of 20 key loci associated with human disease, providing a clear view into regions that were once considered dark and inaccessible.
Through continuous innovation, PacBio is redefining what DNA and RNA sequencing can do. Across applications and across disciplines, here’s how HiFi long-read sequencing is making an impact across every corner of genomics:
Cracking the most complex parts of the human genome
The structure of DNA may have been discovered in the 1950s, but our ability to read and understand its every twist and turn is still evolving. With HiFi long-read sequencing, we’re now resolving regions of the genome that were once thought unreadable. That includes complex, repetitive areas, structural variations, and long-range phasing across entire chromosomes.
For researchers building reference genomes, variant databases, or personalized medicine strategies, this completeness is a game-changer. Whether it’s understanding inherited disease, studying rare conditions, or filling in the remaining gaps of population diversity studies…there’s HiFi for that.
How cancer research gets clearer with long reads
This week, our team is at the AACR conference in Chicago, where the momentum in cancer research is unmistakable, as is the need for technology that can keep up. Cancer is complex, and understanding it requires a complete, multiomic view. HiFi long-read sequencing delivers on this, allowing researchers to detect structural variants, gene fusions, alternative isoforms, and epigenetic modifications, all with a single platform.
HiFi sequencing gives cancer researchers the tools to dig deeper. Whether they’re mapping the full complexity of cancer genomes and epigenomes, exploring RNA regulation through full-length transcriptomes with Kinnex kits, or pushing the boundaries of what’s possible with cell-free DNA detection, sequencing with PacBio opens all new avenues for discovery. From hidden biomarkers to hard-to-detect fusions and isoforms, long-read sequencing is making it easier to see the whole picture. No matter the angle you’re exploring, HiFi brings more of cancer’s complexity into focus.
What HiFi sequencing can do for biopharma
HiFi long-read sequencing is becoming an essential tool for drug discovery and development. Whether it’s identifying drug targets, characterizing biomarkers, or optimizing therapeutic platforms like AAV vectors and CRISPR-Cas9 gene editing, accuracy and resolution matter.
PacBio sequencing supports the entire pipeline – helping teams uncover detailed genomic and transcriptomic information, reduce downstream validation steps, and accelerate timelines. By eliminating blind spots and delivering complete, confident data, HiFi sequencing enables smarter decisions at every stage of development. From initial screens to regulatory submissions…there’s HiFi for that.
Why microbial genomics needs HiFi long-read sequencing
Microbes play vital roles in health, disease, industry, and the environment—and understanding them requires precision. That’s where HiFi long-read sequencing shines. With the HiFi Plex Prep Kit 96 kit, researchers can now scale end-to-end microbial whole genome sequencing, achieving closed chromosomes and plasmids, plus methylation signatures, antimicrobial resistance (AMR) gene profiles, and mobile element tracking.
Want full-length 16S or ITS sequencing for high-resolution taxonomy? PacBio enables complete gene sequencing with species- and strain-level identification. Pairing full-length 16S with the Kinnex 16S rRNA kit means researchers can multiplex up to 1,536 samples per SMRT Cell, maximizing both depth and scale.
For shotgun metagenomics, HiFi technology delivers more functional insights with fewer reads, enabling high-quality metagenome-assembled genomes (HQ MAGs), even from low-abundance species. Whether you’re tackling infectious disease surveillance, microbiome research, or industrial bioprospecting…there’s HiFi for that.
What’s possible for climate, crops, and conservation with HiFi sequencing
Climate change. Food security. Biodiversity loss. These are among the most pressing global challenges, and genomics holds the key to solving them. HiFi long-read sequencing helps agricultural scientists build haplotype-resolved reference genomes, enabling world-class breeding programs, disease resistance studies, and sustainability efforts.
PacBio technology supports pangenome development – an approach that captures the full spectrum of variation across species6 – providing insights that are critical for enhancing yield, resilience, and adaptability. Whether it’s livestock health, crop protection, evolutionary studies, or ecosystem monitoring…there’s HiFi for that.
Making the impossible possible with long-read sequencing
Behind every major breakthrough in genomics today is one unifying idea: when you have the best data, you can do your best science. And that’s exactly what PacBio HiFi long-read sequencing delivers. Exceptional accuracy, long reads, and a growing portfolio of solutions that meet you wherever you are, in whatever you’re trying to achieve.
So this DNA Day, we’re celebrating how far we’ve come, and where we’re headed.
Whatever your field, whatever your challenge…there’s HiFi for that.