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PacBio Literature

  |  2024

Brochure – Human genomics

Reveal the complexity of the human genome to power human disease research — With the advancement of highly accurate long-read sequencing, missing pieces could be resolved and fully complete the genome. PacBio HiFi sequencing gave rise to this achievement and has dramatically improved understanding of the human genome by resolving gaps that are unattainable by other sequencing methods, accurately mapping complex regions, and enabling more contiguous genome assemblies.
  |  2024

PureTarget brochure

PureTarget offers an easy and scalable workflow to capture repeat expansions and brings you from sample to answer in three days. Compatible with the RevioTM and Sequel® II systems, PureTarget libraries can be multiplexed with up to 48 samples, generating deep coverage across the 20-gene target panel.

Application note — Comprehensive genotyping with the PureTarget repeat expansion panel and HiFi sequencing

Powered by the exceptional accuracy of HiFi sequencing and the Tandem Repeat Genotyping Tool (TRGT), the PacBio® PureTarget™ repeat expansion panel offers more comprehensive genotyping for 20 of the most important repeat expansions for human health. This application note demonstrates the performance of the PureTarget repeat expansion panel, and presents the PureTarget panel as a scalable, more comprehensive solution for profiling repeat expansions, compared to legacy genotyping and next-generation sequencing methods.
  |  2024

Solutions Guide – Public Health Brochure

Detect, track, and characterize pathogens to a new standard of completeness and precision. PacBio® solutions offer unmatched accuracy and long read lengths to support a wide range of pathogen surveillance applications.

Product note — Onso SBB

SBB® is an innovative sequencing technology that delivers amazing NGS accuracy. By incorporating native nucleotides and removing the need to cleave fluorescent modifications, the sequencing strand has minimal scarring and results in higher accuracy base calls.

Application Brief: Targeted sequencing for amplicons – Best Practices

With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel System, you can easily and cost effectively generate highly accurate long reads (HiFi reads, >99% single-molecule accuracy) from genes or regions of interest ranging in size from several hundred base pairs to 20 kb. Target all types of variation across relevant genomic regions, including low complexity regions like repeat expansions, promoters, and flanking regions of transposable elements.

Application brief — Germline variant detection with the Onso system

Powered by sequencing by binding (SBB) chemistry, the PacBio short- read Onso platform delivers extraordinary base-calling accuracy (90% of bases at ≥Q40), setting a new standard in genetic research. This remarkable accuracy instills a new level of confidence in sequencing data and improves the ability to characterize challenging genetic variations through genome- wide and targeted approaches.

Application-Brief — HiFi-Target-Enrichment-Best-Practices

With HiFi target enrichment you can easily and cost-effectively sequence just the genes you care about at scale. Design custom gene panels with our partners at Twist, sequence them with long and accurate HiFi reads, and get all the benefits you expect from HiFi reads: comprehensive detection of single nucleotide variants, structural variants, and indels. HiFi target enrichment is the only technology that can resolve complex gene families like HLA or Cytochrome P450 genes with haplotype resolution.​
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