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Pacific Biosciences

ASHG 2021: Improving Human Health through Genomics with HiFi Sequencing

Thursday, November 4, 2021



The PacBio team recently attended the American Society of Human Genetics (ASHG) 2021 Virtual Meeting. The meeting provided a forum for the presentation and discussion of cutting-edge science in all areas of human genetics. ASHG members and leading scientists from around the world were selected to present their research findings. We were excited to be one of the 80 industry partners who participated in ASHG’s annual meeting.

A highlight of the event was a Fireside Chat with our President and CEO, Christian Henry and President of Omniome, Richard Shen. The two discussed their vision for the combined future of the companies and how PacBio intends to become the first company to offer both long-read and short-read sequencing platforms.

Christian Henry shared his excitement about the recent Omniome acquisition: “Having the ability to focus on the technology and the applications that make the most sense is a unique capability. And then on top of that, considering how we can combine these technologies in unique ways so that customers get more deeply integrated answers is going to be really exciting to see unfold. That is what gets me so excited about this acquisition. We can serve our customers in a new way and no other company can do this.”

Watch the entire discussion:



PacBio participated in multiple sessions throughout the conference by highlighting how HiFi sequencing is helping human health through discoveries in many different fields, such as rare disease, cardiovascular, neurological, and immunological diseases, Alzheimer’s disease, and pharmacogenomics.

Jennifer StoneOur Vice President of Segment Marketing, Jennifer Stone, kicked off our workshop by presenting milestones and seminal publications of PacBio’s technology produced this year, demonstrating how HiFi sequencing changed the game in human genetics. In one specific highlight, she showcased research published in Nature Biotechnology that compares a variety of different sequencing platforms. The authors observed that PacBio had the lowest error rate out of all of the technologies listed – further emphasizing the importance and value of accuracy in sequencing. Watch her full talk, “HiFi Sequencing: See What You’ve Been Missing.”


Emily FarrowEmily Farrow of Children’s Mercy Kansas City highlighted the integrated analyses offered by HiFi sequencing. She noted the increased awareness of the complexity of the human genome and reviewed the challenges of rare disease diagnosis. “Historically, long-read sequencing was difficult to deploy due to higher error rates and lower throughput but as these have been rapidly improved these are now an attractive solution for diagnosing rare disease.” She showcased an example of siblings who had a rare disease and had been seeking insights for 7 years. Dr. Farrow explained the challenges of helping these patients and how long-read technology was able to unravel the mystery of their disease. View her talk, “Integrated Rare Disease Genomics Using Long-Read Genome Sequencing.”


Aziz Al'KhafaliAziz Al’Khafaji (@AzizAlkhafaji), from the Broad Institute, shared a new method called Multiplexed Arrays sequencing (MAS-seq), dramatically increasing the throughput and thereby maximizing the potential of sequencing transcript isoforms on the PacBio platform. He described how short-read sequencing technologies provide only limited data on isoforms and long-read sequencing can span the full length of the vast majority of transcripts enabling direct isoform observations. Watch his presentation, “Scalable RNA Isoform Sequencing using Intramolecular Multiplexed cDNAs.”


Henne HolstegeHenne Holstege (@HolstegeHenne), from the Amsterdam University Medical Center, discussed her work with centenarians and long-read sequencing to identify predominantly expressed VNTRs in the brains of patients who have been diagnosed with Alzheimer’s disease. She shared, “During aging, blood stem cells will acquire more and more somatic mutations and that the blood will become more and more clonal with age. So, one clone will eventually generate more blood cells in the peripheral blood and that is what we will be sequencing. We cannot ignore this aspect of sequencing when we will be sequencing older individuals.” The team found that long genes were more likely to be expressed in the brain and associated with neuropsychological disorders. See her full presentation, “Uncovering Neurological Disorders Through an Examination of VNTRs.”

Beyond the PacBio sponsored events, the research community presented many examples where HiFi sequencing was used to fuel exciting new research. Here are some insights that came to light during the event that emphasize the real-world impacts of long-read sequencing:

Adam Phillippy (@aphillippy), of the T2T consortium, unveiled the first truly complete assembly of the human genome (CHM-13). The long and accurate HiFi reads were instrumental in resolving the missing 8% from Grch38 and the additional content represents >200 Mb of new sequences, 2,226 new genes of which 115 are predicted to be protein coding.

During the Multidisciplinary Omics Approaches for Diagnostic Platform session, two separate talks from Radboud MC and Baylor Genetics addressed the limitations of short-read sequencing to cover areas of high homology due to pseudogenes. Radboud estimated that 3.5% of the coding exome is obscured by pseudogenes. As demonstrated by the T2T consortium, and by many publications, HiFi sequencing has been shown to be very effective in resolving areas of high homology.

Mathew Bainbridge of Rady Children’s Hospital shared a good example of this capability in practice. He presented the identification of a likely pathogenic stop loss variant in the IKBKG gene found by HiFi sequencing in a negative case from a previous attempt with short-read genome sequencing. A pseudogene had obscured this call in the previous attempt with short-read sequencing. In his talk he highlighted the value of HiFi sequencing in resolving clinical genes in “dark regions” and the benefits of phasing, structural variation detection and methylation detection. The goal at Rady’s is to eventually develop a single germline genetic assay that will encompass most of the functionality of today’s individual assays.

The conference presentations provided a firsthand look at how PacBio’s technology has helped further research around the world. The team is proud to be a part of such important work and thanks all of the speakers for sharing their research. We look forward to seeing you all at ASHG 2022 next year! Until then, you can register to view our full ASHG program, including lightning talks, co-lab presentations and posters.

Learn more about highly accurate long-read sequencing and how it plays a role in human biomedical research.

Do you have questions about HiFi sequencing and how it can advance your research? Connect with a PacBio Scientist.

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