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 run ‘live’ for 3 weeks from 29 July 2024. Once this period is over there will be no live monitoring of the forums, but you can still join the course during the remaining period until 29 September 2024. You will have 12 months to complete the course once enrolled.

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?

Researchers, clinicians and other healthcare professionals, including practitioners who use, investigate and interpret genomic data and genetic information. Particularly relevant to people who are new to this area and want to improve their knowledge in classifying and interpreting genomic variants.

This course is aimed at professionals and is not intended for patients or relatives of patients seeking support with rare diseases. 

What will you cover?

• Use of genome browser tools, such as DECIPHER to classify and interpret genomic variants in their biological and clinical contexts
• Applying guidelines for variant classification and interpretation and dealing with uncertainty
• Real-world case studies illustrating challenges in variant classification and interpretation
• Variant classification and interpretation in underserved and diverse populations and resource-limited settings
• Exploring different types of genomic variation
• Recognising the role of multidisciplinary teams for variant classification and interpretation

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

Lead educators

Amanda Krause, University of the Witwatersrand, South Africa
Girisha Katta, Sultan Qaboos University, Oman and Manipal Academy of Higher Education, India
Julia Foreman, EMBL European Bioinformatics Institute, United Kingdom
Zané Lombard, University of the Witwatersrand, South Africa

Course developer

Liã Bárbara Arruda, Wellcome Connecting Science, United Kingdom

Wellcome Connecting Science is 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 complete the course within 12 months
• 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