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Explore further

Enrichment of hard-to-amplify genomic regions like repeat expansions is now possible with our amplification-free targeted sequencing method utilizing the CRISPR/Cas9 system.

Unraveling repeat expansion disorders

Many of the disease-causative genes for repeat expansion disorders were mapped decades ago; however, the underlying disease mechanisms are still not fully understood. These expansions can be several kilobases in size which makes them inaccessible with base level resolution to most technologies. Now, by combining amplification-free targeted enrichment using CRISPR/Cas9 system with long-read SMRT Sequencing, scientists can:

  • Eliminate PCR bias and errors
  • Sequence through entire repeat expansions with base-level resolution
  • Quantify repeat numbers in normal- and mutant-expanded alleles
  • Identify interruption sequences
  • Characterize somatic mosaicism

Workflow: from DNA to base-level characterization of repeat expansions

 

Library Preparation

  • Prepare a standard SMRTbell library
  • Enrich for target
    • Digest SMRTbell template with target-specific CRISPR/Cas9 nuclease
    • Ligate capture adapter
    • Pull down templates containing region of interest
SMRT Sequencing with Sequel System

  • Achieve exceptionally long sequencing reads – half the reads >20kb
  • Obtain consensus accuracies >99.999% by avoiding mapping and systematic errors
  • Target minimum coverage of 50 molecules per sample locus
 

Data analysis

  • Generate consensus sequence of each on-target molecule
  • De novo construct the average repeat content for each allele
  • Count repeat distributions including interruption sequences
  • Visualize repeats, including type, number, and location for each allele

Explore our Application Brochure

 

Spotlight: Amplification-free targeted sequencing advances Ataxia research

Scientists are exploring the genetic composition of complete repeat expansions to uncover novel phenotype-genotype correlations between Parkinson’s disease and the gene ATXN10. Explore this research further.

Are you interested amplification-free targeted sequencing? Click here to receive updates and gain early access.