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PacBio Literature

  |  2022

Onso system brochure

Powered by the innovative sequencing by binding (SBB®) technology, the Onso system delivers unprecedented accuracy and sensitivity to advance your critical and groundbreaking research.

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.​

Application note – HiFi amplicon sequencing for Thalassemia

PacBio® HiFi reads are long (up to 25 kb) and accurate (99.9%). Targeted HiFi sequencing of amplicons has the ability to span entire genes, allowing for straightforward haplotype construction, detection of structural variants or copy number variants in addition to SNVs and indels. These attributes make targeted HiFi sequencing well suited to analyze both rare and common variants of all types, thus increasing the positive detection rate of thalassemia-related variants.
  |  2022

Human genomics overview

PacBio® HiFi sequencing delivers highly accurate long reads for analyzing both DNA and RNA. The unique combination of accurate base calling and long read length of HiFi enable the phasing of haplotypes, coverage of high GC regions, and bisulfite-free detection of 5-methylcytosine. Together, these features allow you to explore the full extent of human genetic variation with a more comprehensive view of the genome, transcriptome, and epigenome than ever before.
  |  2022

Onso system specification sheet

The Onso short-read sequencing system is a scalable and flexible benchtop platform that provides an unprecedented level of accuracy through unique sequencing by binding (SBB®) technology. The Onso system features dual lanes, no index-hopping, and low duplications.
  |  2022

Revio system specification sheet

The Revio™ system empowers HiFi sequencing. It adds affordability, high throughput, and ease of use to a foundation of long reads, exceptional accuracy, and direct methylation detection.
  |  2022

Tandem repeat analysis – TRGT

HiFi reads can span most repeats, making it possible to comprehensively profile variation in repeat regions and to measure any changes in methylation. PacBio has developed the Tandem repeat genotyping tool (TRGT) and Tandem repeat visualizer (TRVZ) as bioinformatics tools to accurately profile short tandem repeats, variable number tandem repeats, and macrosatellites.
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