This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Large-scale population sequencing programs have a number of important research goals and outcomes. These include: Generating a comprehensive catalogue of genetic variation to reflect the genetic diversity in a target…
This article explores sequencing coverage fundamentals. Uncover key concepts and discover how highly accurate long-read sequencing provides a comprehensive view of the genome, at any coverage level. What is sequencing…
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…
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…
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…
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…
PacBio is helping researchers usher in a new era of genomics with cost-effective tools to accurately identify human disease-causing tandem repeat changes and detailed sequences of specific genes at scale….
In this article, we discuss PacBio RNA sequencing through the lens of our most recent Iso-Seq Social club event. Read about the exciting scientific wins that were shared, and…
Pseudogenes are typically regarded as non-functional DNA elements, and have therefore not received as much attention as their parent genes. Thanks to PacBio HiFi sequencing, many pseudogenes now RISE…
The PacBio team recently attended the AGBT (Advances in Genome Biology and Technology) Precision Health conference in San Diego, Calif. This was the seventh year of the conference,…
The combined accuracy, read length, and coverage uniformity of PacBio HiFi sequence reads enables the characterization of many previously inaccessible regions in the genome. Two new preprints by Oscar…
More precise data provided by PacBio HiFi sequencing can have a marked impact on the resolving power in genetic association studies and decrease the required cohort sizes. As a…
Is it possible to save time and resources while also increasing the quality of data you receive? For many, this might seem impossible. But recently, some researchers have found that…
What would be possible if every human genetics researcher had a complete reference genome? Today, researchers use a good – but incomplete – reference genome released in 2013. As…
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