Explore cutting-edge rare disease studies demonstrating how HiFi sequencing is helping to advance rare disease research and improve solve rates.
Download the updated edition of our whitepaper to discover the latest evidence supporting HiFi sequencing in rare disease research and clinical workflows.
This expanded literature review now includes recently published studies, updated quantitative proof points, and additional examples of how HiFi whole genome sequencing is being used to identify variants often missed by traditional approaches.
Updated topics include:
✔ New quantitative evidence showing improved solve rates and increased detection of complex variants compared to traditional sequencing approaches
✔ Recently added studies on a variety of different rare disease phenotypes, covering assay consolidation, potential clinical implementation, and first-line testing approaches
✔ Multiomic examples demonstrating how researchers are integrating genomic, transcriptomic, and epigenetic methylation insights to better understand rare disease mechanisms
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An expanded analysis “toolbox” featuring the latest methods and informatics resources designed to maximize insights from HiFi long-read sequencing data