Whitepaper

Improving solve rates in rare disease research with HiFi long-read sequencing

Explore cutting-edge rare disease studies that demonstrate how HiFi sequencing is advancing genomic research and helping to increase solve rates

This literature review summarizes a growing body of evidence supporting the use of long-read sequencing in clinical research for rare diseases. We hope it inspires you to consider how HiFi sequencing technology can drive breakthroughs at your institution.

Topics include:

  • Descriptions of rare disease cohorts sequenced with PacBio technology, as well as solve rates in each study
  • Summaries of HiFi sequencing studies involving rare disease research and potential clinical implementation
  • An analysis "toolbox" of methods to help extract the most value from HiFi long-read sequencing

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