Enabling a first-tier test for rare disease скачать в хорошем качестве

Enabling a first-tier test for rare disease

At PRISM 2025, Professor Alex Hoischen of Radboud University Medical Center discusses the limitations of current genomic tests for rare diseases, where over half of patients remain undiagnosed. He presents a case for potentially adopting HiFi long-read sequencing as a possible single, first-tier diagnostic test to address this significant challenge. Professor Hoischen highlights a critical gap in standard short-read sequencing, which often fails to detect structural variants, indels, and repeat expansions that constitute over 36% of genomic variation. This means the genetic cause of a patient's condition may be entirely missed by conventional methods. He outlines a three-step validation strategy using the PacBio Revio system—from testing known positive controls to prospective clinical utility studies—to build the evidence required for implementing a more comprehensive genomic analysis in a clinical setting. 00:00 Introduction & the rare disease challenge 02:38 The diagnostic gap in standard genomics 04:28 Why long-read sequencing is a necessary change 05:14 A 3-step strategy for clinical implementation Subscribe for more insights from PacBio:    / @pacificbiosciences   Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-tradem...