Next-Generation Sequencing (NGS) has dramatically accelerated the generation of variant data; however, the processes of data analysis and variant interpretation remain some of the most challenging and time-intensive aspects. As genomic testing becomes increasingly vital in clinical diagnostics, it is essential to gather and curate evidence to determine if a variant has been reported before and to understand its potential impact.

Although numerous computational tools exist to aid interpretation, many users find it difficult to choose the most suitable methods and to use these tools effectively.

This course aims to empower you to:

Identify the Best Resources: Develop skills to locate and apply the most reliable tools for variant interpretation across multiple genome browsers.

Master HGVS Nomenclature: Gain practical experience with HGVS standards and learn how to accurately name complex variants.

Select Appropriate Analysis Techniques: Understand which analytical approaches to use and recognize common challenges within NGS workflows.

Confidently Classify Variants: Apply the ACMG classification framework, including the latest guidelines and updates.

Utilise Phenotype Ontologies: Discover the Human Phenotype Ontology (HPO) and how HPO terms support effective variant prioritization.

Delve into Advanced Topics: Expand your knowledge with RNA analysis, mitochondrial genomics, and additional specialized subjects.

Whether you are new to DNA variant interpretation or an experienced professional, this course provides the essential knowledge and practical tools to refine your skills and keep pace with the evolving landscape of genomics.