veptc2025 (original) (raw)

Next-Generation Sequencing (NGS) has revolutionised the speed of generating variation data, yet data analysis and variant interpretation remain the most time-consuming and complex steps. As genomic testing becomes increasingly integral in diagnostics, it’s crucial to gather and curate evidence to determine whether an identified variant has been previously reported and its potential effects.

While various computational tools have emerged to assist with analysis and interpretation, end users often struggle with selecting the most appropriate methods and utilising these tools effectively.

This course is designed to help you:

Navigate the Best Tools: Learn to find and use the best resources for variant interpretation using a variety of genome browsers.

Master HGVS Nomenclature: Gain hands-on experience with HGVS nomenclature and discuss how to name challenging variants.

Choose the Right Methods: Understand which analysis methods to apply and identify potential pitfalls in NGS workflows.

Classify Variants with Confidence: Learn to classify variants using the ACMG classification system, including recent updates and recommendations.

Explore Phenotype Ontologies: Get introduced to Human Phenotype Ontology (HPO) and discover how HPO terms can aid in variant prioritisation.

Dive Into Advanced Topics: Explore RNA analysis, mitochondrial genomics, and much more.

Whether you're a beginner or an experienced professional interpreting DNA variants, this course will provide you with the fundamental knowledge and tools to enhance your variant analysis skills and stay up-to-date with the latest advancements in the field.