In recent years, whole exome sequencing (WES) has become a popular method for identifying the genetic underpinnings of disease in both research and clinical settings. However, because an exome is…
Understanding the myriad of different cell types, states, and their functions is essential to understanding biology. Cell atlas projects and consortia aim to map different cell types in tissues, organs,…
With Earth Day almost here, it is important to remember that our planet is made up of countless interconnected parts, from vast oceans to the microscopic world of microbes. Despite…
See how the Chaisson lab created a new method to characterize human VNTR variation with PacBio long-read sequencing. Structural variants are hard to find with short-read sequencing methods At present,…
The Revio system offers faster and more cost-effective long-read sequencing for metagenomics researchers, allowing for more high-quality and complete microbial datasets and access to new frontiers of discovery. The best…
pbfusion is a new software tool for detecting gene fusions and other transcriptional abnormalities in PacBio Iso-Seq data. The advancement of cancer research depends on the ability to accurately detect…
Uncover the mysteries of RNA dysregulation in cancer Our understanding of the complex biology of cancers is currently limited by the sequencing technology that we have available. For example, a…
Written by: Menzies Chen, Director, Product Management, Informatics With the launch of the Revio system, PacBio is bringing a host of technologies together to increase scale for HiFi long-read…
Get more from your HiFi reads with HiFiCNV, a powerful new software tool for capturing large copy number variants throughout the genome. Why CNVs and HiFi reads are important Copy…
Countries around the world have recognized the value of precision health and population genomics research initiatives. They have launched efforts to sequence thousands to millions of genomes in order to…
Last updated: 30 MAR 2026 Long-read sequencing technologies such as PacBio HiFi sequencing are quickly becoming the new gold standard in genomics research. This article provides an introductory look at…
Individual rare diseases affect a small portion of the population. However, because there are over 7,000 known rare diseases, they are, in fact, somewhat common. It is estimated that around…
If you know someone affected by a rare disease, next week marks an important day for awareness and education in the rare disease community. Anyone can be affected by rare…
Population genomics initiatives are gaining traction around the world. There are currently more than 20 active programs spread around the globe, and these programs aim to sequence millions of…
For the first time, PacBio is enabling high-throughput, comprehensive profiling of SMN1 and SMN2 with an all-new software tool called Paraphase. Since the first known case of spinal muscular…
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