Integrated Rare Disease using Long-Read Genome Sequencing скачать в хорошем качестве

Integrated Rare Disease using Long-Read Genome Sequencing

Genomic variation beyond single nucleotide variants, including structural variation (SV), copy number variants (CNV), and repeat expansions, plays a significant role in rare disease. However, current technologies require multiple tests to fully access these variants, resulting in complex testing algorithms and the potential for missed diagnoses. Long-read genome sequencing offers the ability to accurately detect SNV, CNV, SV, and expansions with a single test. This presentation will highlight the integrated analyses offered by HiFi sequencing, using case examples demonstrating the potential for a unified test. 0:00 Introduction 1:48 Why Are Long Reads Increasingly Utilized 3:59 Testing Assays 5:08 Genomic Answers for Kids (GA4K) 5:46 Sequencing Strategy 6:36 HiFi Analytic Strategy 8:16 Combined SNV and CNV Analyses 11:16 cmh001017 and cmh001018- Challenges 11:55 Copy Number Challenges 14:04 Expansion Disorders 15:16 Fragile X: cmh003372-04 16:25 Repeat Expansion 17:17 Expansion Considerations 18:58 Mitochondrial Genome Coverage 19:41 HiFi Genome Progress 20:26 Summary 20:57 Acknowledgements Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-tradem...