Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations

Advance your genomic variation knowledge and explore its various challenges

On this dynamic three-week course, harness the power of bioinformatic tools and explore insights to unravel the complexities of genetic variation and its implications across diverse biological contexts.

Dive into the world of genomic variation with cutting-edge bioinformatic tools

This module introduces you to essential classification and interpretation techniques, enhancing your ability to determine the pathogenicity of genomic variants.

By examining the genomic, biological, and clinical contexts, you’ll build the foundation needed for effective variant analysis in diverse populations.

Navigate variant classification and interpretation

Gain a comprehensive understanding of evolving guidelines for genomic variant interpretation. This part of the course equips you with the knowledge to stay ahead in this rapidly advancing field, applying key concepts and techniques directly to your work or research.

Through detailed exploration, learn to adapt these guidelines to various contexts, ensuring your skills remain relevant and impactful.

Learn from expert-led case studies

Engage with real-world case studies led by experts in genomic variant classification. This interactive module offers a deep dive into the complexities of interpreting genomic data, highlighting challenges and uncertainties encountered in research or clinical practice.

Exchange experiences and strategies with field leaders, enriching your understanding and approach to genomic interpretation.

By the end of the course, you’ll have navigated through the intricacies of genomic variation, from mastering bioinformatic tools to applying international guidelines with confidence.

This course is designed for researchers, clinicians, and healthcare professionals engaged in genomic data and genetic information.

It’s also suitable for newcomers looking to advance their knowledge in classifying and interpreting genomic variants. However, this course is not an introduction to genomics, and we expect learners to have previous knowledge of human genetics.

• The basic concepts
• Introduction to the course
• Fundamentals of variant interpretation
• Disease-associated variants
• Predictions and annotations
• Your learning progress
• Advanced concepts
• How variation impacts proteins
• Interpreting genomic variants
• Variant investigation in clinical practice
• Your learning progress
• Applying concepts to diverse populations
• Dealing with uncertainty
• Initiatives to improve interpretation
• Beyond variant intepretation
• Your learning outcomes