Long Read Sequencing: Analysis, Annotation, Interpretation

AI powered genetic analysis using Long Read Sequencing

What you'll learn

Geneyx Courses: Long Read Sequencing - Analysis, Annotation, and Interpretation

Introduction to Long-Read Sequencing

Clinical Use Cases

Long Read Sequencing Data Analysis

Clinical Adoption of Long Read Sequencing

Requirements

Previous knowledge is mandatory for the following modules: Basic genetics, Population genetics, and Genetic work-up methodologies.

Description

Join our Expert-led course: Long Read Sequencing: Analysis, Annotation, and Interpretation. This hands-on, intensive program is designed for researchers, geneticists, and bioinformaticians looking to gain deep, actionable insights from complex genomic data.Dive into the latest advancements in Long Read Sequencing using Geneyx Analysis and learn how to navigate the intricacies of genomic analysis, annotation, and interpretation. With expert guidance and practical exercises, you’ll develop the skills necessary to apply Long Read Sequencing in real-world research and clinical diagnostics.Throughout the course, you'll be introduced to powerful techniques for identifying rare genetic variants and understanding complex genomic data. The course on Long-Read Sequencing (LRS) begins with an introduction to the differences between Short-Read and Long-Read Sequencing, covering sequencing platforms like Oxford Nanopore Technologies and PacBio, and discussing variant types and their clinical impact through a real-world case study. Week 2 focuses on clinical use cases, highlighting LRS's impact on rare disease diagnosis and its role in providing diagnostic uplift with phenotype-driven insights, supported by data from LRS publications. In Week 3, the course delves into LRS data analysis, including secondary analysis options, LRS data annotation with key databases, and an introduction to Geneyx for phasing and methylation analysis, along with hands-on practice using real LRS cases. The final week explores the clinical adoption of LRS, discussing its role in rapid NICU sequencing and applications in pharmacogenomics (PGx).You'll also gain hands-on experience with Geneyx Analysis tools designed to enhance the precision and speed of genomic analysis.Whether you're working in clinical genomics, genetic research, or healthcare innovation, this course will provide you with the tools to elevate your expertise. Mastering Long Read Sequencing will empower you to tackle challenging genomic problems and improve diagnostic capabilities.Don’t miss the chance to stay at the forefront of genomic science and accelerate your understanding of complex genetic data.

Overview

Section 1: Introduction to Long-Read Sequencing

Lecture 1 Introduction to Long-Read Sequencing

Lecture 2 Oxford Nanopore - Human WGS Workflow

Lecture 3 PacBio - Driving discoveries with best in-class HiFi LRS

Section 2: Clinical Use Cases

Lecture 4 Clinical Use Cases

Section 3: Long Read Sequencing Data Analysis

Lecture 5 Long Read Sequencing Data Analysis

Section 4: Clinical Adoption of Long Read Sequencing

Lecture 6 Clinical Adoption of LRS

This course is designed for health professionals working in diverse domains; clinical professionals (consultants and trainees) and clinical scientists,Expert knowledge and hands-on training