The release of the PacBio Sequel II System in 2019 brought dramatic throughput improvements and protocols for producing a new data type, highly accurate long reads or HiFi reads. PacBio…
In this LabRoots webinar, Jonas Korlach the CSO of PacBio provides an introduction to PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%)…
Jeremy Schmutz discusses the increased throughput and reduced project costs using HiFi reads from the PacBio Sequel II System in his work sequencing, assembling, and analyzing a variety of genomes…
The utility of new highly accurate long reads, or HiFi reads, was first demonstrated for calling all variant types in human genomes. It has since been shown that HiFi reads…
In this webinar you will hear how several researchers have overcome the challenges of sequencing organisms with small body size using the new low and ultra-low DNA input methods from…
In this SMRT Leiden 2020 Online Virtual Event presentation, Ivan Sovic of PacBio shares work on a new tool for improved and phased assembly of HiFi data called IPA. IPA…
In this SMRT Leiden 2020 Online Virtual Event presentation, Erwin Datema of KeyGene shares his work on using high-throughput, accurate long-read sequencing technologies, such as PacBio HiFi sequencing, to drastically…
In this SMRT Leiden 2020 Online Virtual Event presentation, Marcela Uliano da Silva of Wellcome Sanger Institute shares her work using CCS data combined with HiC reads to assemble chromosome-level…
In this PacBio Virtual Global Summit 2020 presentation, Evan Eichler of the University of Washington discusses approaches to apply long-read sequencing to generate complete telomere-to-telomere assembly of chromosomes. Eichler focuses…
In this PacBio Virtual Global Summit 2020 presentation, Nicole Newell of PacBio provides an overview of the library preparation kits available for highly accurate long read (HiFi sequencing) applications.
In this PacBio Virtual Global Summit 2020 presentation, Jeremy Schmutz of HudsonAlpha Institute describes applications for PacBio HiFi sequencing to detect structual variations and assembly human genomes, as well as…
In this PAGBio Day 2021 presentation, Bo Wang of Cold Harbor Spring Laboratory shares his work constructing chromosome-level genome assemblies for two sorghum inbred lines using long-read sequencing leading to…
In this PAGBioDay 2021 presentation, Michelle Vierra of PacBio provides the official welcome to PAGBio Day including a presentation on the latest in HiFi sequencing. Michelle is be followed by…
During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many rare genetic diseases with unknown cause. There may be many reasons for this, but one plausible explanation is that the responsible mutations are in regions of the genome that are difficult to sequence using conventional technologies (e.g., tandem-repeat expansion or complex chromosomal structural aberrations). Despite the drawbacks of high cost and a shortage of standard analytical methods, several studies have analyzed pathogenic changes in the genome using long-read sequencers. The results of these studies provide hope that further application of long-read sequencers to identify the causative mutations in unsolved genetic diseases may expand our understanding of the human genome and diseases. Such approaches may also be applied to molecular diagnosis and therapeutic strategies for patients with genetic diseases in the future.
The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or continuous long-read (CLR) datasets from the same complete hydatidiform mole human genome. We find that the HiFi sequence data assemble an additional 10% of duplicated regions and more accurately represent the structure of tandem repeats, as validated with orthogonal analyses. As a result, an additional 5 Mbp of pericentromeric sequences are recovered in the HiFi assembly, resulting in a 2.5-fold increase in the NG50 within 1 Mbp of the centromere (HiFi 480.6 kbp, CLR 191.5 kbp). Additionally, the HiFi genome assembly was generated in significantly less time with fewer computational resources than the CLR assembly. Although the HiFi assembly has significantly improved continuity and accuracy in many complex regions of the genome, it still falls short of the assembly of centromeric DNA and the largest regions of segmental duplication using existing assemblers. Despite these shortcomings, our results suggest that HiFi may be the most effective standalone technology for de novo assembly of human genomes. © 2019 John Wiley & Sons Ltd/University College London.
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