This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Hearing “the end of the beginning” or “the dawn of a new era” might sound like a grandiose way to describe a scientific milestone. Would it surprise you to…
For years, exome sequencing has been a popular method for identifying disease-causing variants, both in clinical and research settings, due to its relative affordability and practicality when compared to whole-genome…
In honor of Rare Disease Day 2024, we spoke with Dr. Kym Boycott of the Care4Rare Consortium about how HiFi sequencing has helped deliver answers to families impacted by rare genetic diseases.
In the field of genetics, the concept of tandem repeats has been both scientifically fascinating, experimentally challenging, and motivating for technology development. As DNA sequencing technologies and analysis tools have…
A new Arab pangenome reference has been constructed from 43 individuals enabling the study of variants and sequences of significance to the Arab population. In a newly released preprint entitled…
PacBio HiFi long-read sequencing is one of the most advanced sequencing technologies for generating groundbreaking discoveries that can expand our understanding of human health. In case you missed it, we…
A benchmarking of long-read RNA sequencing methods and analysis tools The Long-read RNA-Seq Genome Annotation Assessment Project (LRGASP) consortium, an initiative to systematically evaluate methods for transcript identification and quantification,…
As more researchers embrace the benefits of PacBio long-read sequencing technology, an expanding community of analysis tool developers has taken shape. Thanks to this growing excitement around PacBio capabilities there…
Delve deeper into the importance of capturing diversity with population-specific reference pangenomes. The movement towards the development of pangenomes is gaining steam, bringing the reality of truly personalized medicine closer….
Fresh off the special Nature issue last month on the first human pangenome reference (featured in a previous blog), the first regional human pangenome reference study, entitled A Pangenome Reference…
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 exome is…
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,…
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…
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