This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
How does a genome of roughly 20,000 protein-coding genes1 build a brain, an immune system, and hundreds of distinct cell types? Gene count alone falls well short of explaining…
ASHG 2026 brought the human genetics community to Montréal this past October for a week of science spanning rare disease, cancer, population genomics, and new approaches to working with…
Many clinical research genomics teams have built deep expertise around short-read analysis. They know how to assess data quality, align reads, call variants, weigh evidence, and connect genomic findings…
The ability to detect DNA methylation with PacBio sequencing may be old news, but the scientific discoveries it enables are anything but. Since the inception of PacBio long-read sequencing,…
A complete view of the genome often depends on the regions that are hardest to sequence. Structural variants, repeat expansions, and segmental duplications can shape disease risk, trait biology,…
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…
For families affected by facioscapulohumeral muscular dystrophy (FSHD), one of the hardest parts of the condition is not knowing what comes next. FSHD is one of the more common…
This quarter’s publications point to a shared theme. Whether researchers are searching for clearer answers in rare disease, mapping cell identity across the human body, or interpreting variants linked…
For researchers across all stages of their careers, grant funding decisions can often feel like a black box. Despite this ambiguity though, one thing that holds across the proposals…
We are thrilled to announce the winners of the 2026 Metagenomics SMRT Grant for HiFi shotgun metagenomics. This year’s program received hundreds of amazing proposals from researchers around the…
Building a research program takes a career’s worth of scientific work. Writing the grant proposal to fund the next step asks for a different kind of effort entirely, and…
Understanding biodiversity means knowing which species are present, in what abundance, and how those communities change over time or in response to disturbance. This question sits at the core…
For decades, reference genomes carried a hidden asterisk. Even the best assemblies contained gaps, particularly in regions packed with repetitive sequences, where short reads pile up but fail to…
PacBio began shipping SPRQ-Nx chemistry for the Vega system this week, a launch that meaningfully expands what benchtop HiFi sequencing can do. A companion software update arrives alongside it,…
When Dr. Adam Ameur first encountered long-read sequencing data, the idea of sequencing thousands of complete human genomes with long reads seemed distant. Back in 2013, he was using…
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