Assessing HiFi genomes as first-tier analysis in rare disease genetic research @PacificBiosciences
Assessing HiFi genomes as first-tier analysis in rare disease genetic research  @PacificBiosciences
Uploaded January 2025 | Updated September 2026, 5 hours ago
Dr. Alex Hoischen from Radboudumc discusses groundbreaking advancements in genetic research and technology. He highlights the installation of their second HiFi sequencing system and their collaborative efforts with PacBio. He delves into the potential of HiFi genomes to replace traditional germline testing by successfully identifying challenging mutations and potentially enhancing clinical applications. In addition, he goes on to show examples of how HiFi genomes can help provide a clearer understanding of the underlying biology in rare diseases.

Dr. Hoischen also emphasizes the importance of solvingexplaining more genetic cases, thereby assisting more families around the world. He shares updates on the HiFi Solves EMEA consortium and upcoming studies aimed at pushing genetic technology further.

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Assessing HiFi genomes as first-tier analysis in rare disease genetic research

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