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PacBio Literature

Application brief — HiFi target enrichment with Twist probes

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.
  |  2025

Technical note — High throughput DNA shearing using Hamilton Microlab Prep

The whole genome sequencing (WGS) application requires an up-front mechanical DNA shearing step to transform genomic DNA into fragment sizes appropriate for HiFi sequencing. With the Hamilton Microlab Prep system, this step can be performed in as little as 22 minutes for 24 samples at the cost of a pipette tip per sample. Here we describe the required equipment and consumables, best practices, and procedure for shearing DNA on the Microlab Prep system.

Application brief — HiFi amplicon sequencing

With PacBio long reads you can easily and cost-effectively sequence the full length of amplicons that target genes or regions of interest, from several hundred base pairs to kilobase scale. Highly accurate HiFi reads allow you to target across types of variation, from single nucleotide variants and indels, to structural variants. It also enables unambiguous haplotype resolution through direct phasing. HiFi sequencing can reveal biology that other technologies miss, like low-complexity regions, repeat expansions, GC-rich promoter regions, and insertion sites of transposable elements.

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.
  |  2025

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.
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