Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations

Duration: 3 weeks, 5 hours per week

No Fees: Free Certificate of Achievement available on satisfactory completion

Start Date: The course is facilitated by the educators for the first 3 weeks (7-27 July 2025).  After this period, the course will remain open for enrolments for a further 6 weeks (until 7 September 2025) but without facilitation. All learners will have access to the course materials for 1 year.

Why join this course? 

The course will guide you through the process of variant classification and interpretation using a range of real-world case studies, including the complicating factors and sources of uncertainty you are likely to encounter in research or clinical practice. You will also have the opportunity to interact and exchange experiences with experts in the field.

Who is this course for? 

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.

What will you achieve?

By the end of the course, you‘ll be able to:

• Use tools for genomic variant classification and interpretation in different contexts
• Interpret and apply international guidelines for variant classification and interpretation and dealing with uncertainty
• Explain how changes in the understanding of biological implications of variants affect their classification and interpretation
• Assess the implications of clinical context in dealing with variants of unknown significance
• Recognise the challenges in variant classification and interpretation in diverse populations and resource-limited settings

Educators

Julia Foreman
EMBL European Bioinformatics Institute, United Kingdom

Girish Katta
Sultan Qaboos University, Oman

Zané Lombard
University of the Witwatersrand, South Africa

Amanda Krause
University of the Witwatersrand, South Africa

Wellcome Connecting Science

Liã Bárbara Arruda – Education developer

Zoey Willard – Project coordinator

1. Click on the ‘Join’ button.
2. It will send you to the FutureLearn course page.
3. Click on the pink button ‘Go to course’ or ‘Join now’.
4. Follow the instructions to register for the free course.

Feedback from the previous course participants

“A must course for molecular and clinical geneticists! This course provides a step-by-step insight from basic to advanced levels for understanding the context of interpreting genomic variations. It’s very crucial to be able to differentiate polymorphic mutations from disease-causing variations. This course does a right job for that. The content is very systematically planned from the expert clinicians who are the stalwarts of the field! I recommend this course!”

Wellcome Connecting Science are offering everyone who joins this course a free digital upgrade, so that you can experience the full benefits of studying online for free. This means that you get:

• Unlimited access to this course
• Includes any articles, videos, peer reviews and quizzes
• Tests to validate your learning
• A PDF Certificate of Achievement to prove your success when you’re eligible