Integrated Rare Disease using Long-Read Genome Sequencing

Показать описание

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

PacBio

Рекомендации по теме

Integrated Rare Disease using Long-Read Genome Sequencing

Integrated Rare Disease using Long-Read Genome Sequencing

Long Reads to Identify Hidden Structural Variants in Rare Disease

Increasing Solve Rates in Rare and Mendelian Disease Research with Long-Read Sequencing

Jenny Ekholm Rare Disease Global Summit 2020

Long-Read Genome Sequencing for the Molecular Understanding of Neurodevelopmental Disorders

The Present and Future of HiFi Whole-Genome Sequencing for Rare Disease

Multimodal Data Integration for Rare Disease and Cancer Genomic Diagnosis

NGS Webinar Series - Rare Disease Diagnostics in Complex Genomic Regions with Long Reads

Maximizing the power of genomic sequencing in pediatric rare disease

The power of whole exome sequencing to unravel the cause of rare disease

Integrative multiomics approaches in oncology and rare disease research

Genomics England Research Seminar May 2023 - Early Career Researchers Rare Disease Showcase

Diagnosing the undiagnosed with long-read genome data | ACMG Corporate Satellite | Wendy Chung

Emerging Technologies in Rare Disease Research: Experiences from the Undiagnosed Diseases Network

Introduction to Highly Accurate Long-Read Sequencing (HiFi Sequencing)

Diagnosis of rare diseases: contribution of next generation sequencing - VEn subtitles En

Increasing the Solve Rate of Rare and Undiagnosed Genetic Diseases with HiFi Sequencing

Detection and Diagnosis of Mendelian and Undiagnosed Diseases

Finding the genetic cause for patients with genodermatoses – Clinical Genomics Uppsala

Third generation sequencing for diagnosis of rare disease

Genomic Answers for Kids

Uncovering rare disease-causing variants

Jeffrey Rosenfeld│Long Read Sequencing of Tumor RNA and DNA to Analyze Fusions and Amplicons

Long read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders

Long-Read Genome Sequencing for the Molecular Understanding of Neurodevelopmental Disorders