Why accurate long reads are essential for rare disease research скачать в хорошем качестве

Why accurate long reads are essential for rare disease research

Even with advanced genetic testing, many rare disease cases remain unsolved. In this interview from the PacBio SPRQ Your Research series, Alexander Hoischen, Professor of Genomic Technologies at Radboud University Medical Center, discusses this challenge and explains how high-quality long-read sequencing is providing new hope for patients and their families. Professor Hoischen explains how PacBio HiFi sequencing can help researchers find previously hidden mutations, such as complex structural variants and repeat expansions, that are often missed by other methods. He shares a powerful case study where this approach contributed to a diagnosis for a family, illustrating the profound impact of obtaining a more complete genomic picture. Discover the results of a landmark 1,000-genome study that demonstrates the potential for HiFi sequencing to become a single, comprehensive genetic test for rare disease research. Learn how the scalability of the Revio system, combined with SPRQ chemistry and automated workflows, is making large-scale studies possible and accelerating the pace of discovery. 00:15 The challenge of unsolved rare disease cases 01:03 How HiFi sequencing helped solve a tragic family case 02:50 A landmark study: 1,000 HiFi genomes for rare disease research 08:50 The future: one comprehensive test for rare disease research? 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...