Alternative splicing occurs when exons from the same gene combine in different ways, resulting in different (but related) RNA transcript isoforms, which in turn create different proteins with distinct structures and functions. Despite being “alternative,” this process isn’t rare. Up to 95% of genes in the human genome undergo alternative splicing. The resulting RNA diversity plays a key role in human biology, as different isoforms can be drivers of disease. For this reason, full-length isoform sequencing is a powerful tool that allows investigators to look at how alternative splicing disrupts ..read more

  The complexities of cancer biology are famously tricky to decipher. Peering into the murky cancer genome and making sense of tumor mechanisms has long been the goal of researchers everywhere, and technology has often felt one step behind. But the genomics landscape is evolving quickly. Now, researchers no longer need to be limited by the sequencing technology of yesterday. Today, cancer researchers are moving away from using only short-read sequencing and instead harnessing the power of long reads to see into the cancer genome, transcriptome, and epigenome to help characterize tumor b ..read more

  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 learn these phrases were used in 2003 to celebrate the completion of the Human Genome Project? Despite the fanfare, only 92% of the human genome had been mapped then. Now, let’s leap to 2022. The once elusive 8% has been brought to light, thanks to HiFi sequencing, culminating in the first-ever complete “telomere-to-telomere” assembly of a human genome. Such an accomplishment might seem beyond the reach of everyday research, reserv ..read more

PacBio HiFi sequencing technology continues to be the tool of choice for genomics professionals working at the forefront of discovery, enabling them to pursue new avenues of exploration across diverse domains of biology. In this edition of our Powered by PacBio blog series, we highlight scientific papers from the month of March 2024. These intriguing publications highlight the power of PacBio sequencing for fusion detection, immunology, looking into divergent and mutated regions of primate genomes, and understanding how stimulated saliva interacts with wine.   Jump to topic: Ge ..read more

  In the fast-evolving landscape of genomics, the pace can be dizzying, and the fear of falling behind is real. Genomic research undergoes constant change, so if you want to keep your finger on the pulse of what’s available, you need to know the facts. Not too long ago, long-read sequencing was an emerging technology. Today, PacBio HiFi long reads are routinely used across the world to sequence thousands of genomes, epigenomes, and transcriptomes. HiFi sequencing applies to projects large and small, from academic research endeavors to large-scale population health studies. The rate of t ..read more

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 sequencing. However, because the exome is confined to only protein-coding regions of the genome (about 1.5% to 2%), it is inherently limited.1 That limitation has long been an acceptable trade-off for cost and throughput reasons, but it no longer needs to be. HiFi whole-genome sequencing on the Revio system not only captures a more complete picture of genetic variation, both in i ..read more

  Faculty at the Translational Genomics Research Institute (TGen) at City of Hope were among some of the first to see the promise of the Onso system and sequencing-by-binding (SBB) chemistry for advancing liquid biopsy research. PacBio recently had the opportunity to sit down with Cristian Tomasetti, Director of the Center for Cancer Prevention + Early Detection at City of Hope and TGen, to discuss Onso and SBB performance in the development of new cutting-edge liquid biopsies by the organization. Key takeaways: The team at TGen is developing liquid biopsy assays based on fragmentomics ..read more

PacBio HiFi sequencing technology continues to be the tool of choice for genomics professionals working at the forefront of discovery, enabling them to pursue new avenues of exploration across diverse domains of biology. In this edition of our Powered by PacBio blog series, we highlight scientific papers from the month of February 2024. These intriguing publications highlight the power of PacBio sequencing for unraveling the complexities of rare disease, cancer transcriptomics, agrigenomics, and more.   Jump to topic: Cancer transcriptomics  Rare disease  Ne ..read more

Since 2022, the Care4Rare Canada Consortium (Care4Rare) has collaborated with PacBio on a ground-breaking study looking at some of the most complex and unexplained rare disease cases in Canada. This initiative, led by the CHEO Research Institute, seeks to reveal the underlying biology of genetic disorders that impact as much as 3% of the Canadian population. We recently had the opportunity to sit down with Kym Boycott, MD, PhD, Chair of the Department of Genetics at CHEO and Senior Scientist at the CHEO Research Institute to check in on project progress and to discuss the impact she is seeing ..read more

When new sequencing instruments are released, great leaps in genomics capabilities follow. But did you know that for some applications like 16S microbiome research, gene annotation, or cancer transcriptomics, “new-instrument-level” performance can be achieved with something as simple as an off-the-shelf kit? That is exactly what the new Kinnex kits for full-length 16S, bulk RNA, and single-cell RNA sequencing deliver. In this piece, we explore a series of talks given by PacBio experts and third-party scientists as they dive into what Kinnex kits are, how they work, and how they can enable you ..read more