• Wellcome Connecting Science

Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations

Enhance diagnostics and research in diverse populations by unravelling the complexities of genomic variation in three weeks.

1,154 enrolled on this course

Decorative picture healthcare professionals sitting around a table. At the center of the table there is a paper with an illustration representing the DNA sequence for two differnt people highlighting DNA variation between them
  • Duration

    3 weeks
  • Weekly study

    5 hours
  • 100% online

    How it works
  • Digital upgrade


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.

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.

Skip to 0 minutes and 8 seconds Hi. In the course interpreting genomic variation overcoming challenges in diverse populations, you will learn from experienced geneticists and researchers from different parts of the world about the tools and resources available to investigate genomic variants. You will learn from the fundamentals of variant classification and interpretation how to understand variants of unknown clinical relevance. You will explore tools, resources, and guidelines to discuss real world case studies in diverse populations. What is the impact of diversity on genomic variant classification and interpretation? How would you apply the current approaches and the use of data available in the context of underrepresented populations? You will hear from experts from different countries about how they are tackling these challenges.

Skip to 0 minutes and 57 seconds Using interactive exercises, you will discuss and reflect with your colleagues about the importance of expanding global databases and how to commit to ethical data sharing. In addition, you will also learn about multidisciplinary efforts to improve and democratise variant classification and interpretation worldwide. We hope you enjoy the course.


  • Week 1

    The Basic Concepts

    • Introduction to the course

      Meet the team behind this course and also learn how to interact with fellow learners from all around the world.

    • Fundamentals of variant interpretation

      An introduction to the basic concepts of genomic variant classification and interpretation.

    • Disease-associated variants

      Do all variants cause disease? Learn how to identify pathogenic variants.

    • Predictions and annotations

      Learn about predictive scores, how to annotate a genome and what bioinformatic tools to use.

    • Your learning progress

      Review what you have learnt this week.

  • Week 2

    Advanced concepts

    • How variation impacts proteins

      An overview of how variation can lead to functional modifications.

    • Interpreting genomic variants

      A summary of how to apply tools for genomic variation classification and interpretation.

    • Variant investigation in clinical practice

      Learn how geneticists and multidisciplinary teams investigate genomic variants.

    • Your learning progress

      Review what you have learnt so far.

  • Week 3

    Applying concepts to diverse populations

    • Dealing with uncertainty

      Understand the impact of variants of unknown significance.

    • Initiatives to improve interpretation

      Hear how global experts are tackling the lack of diversity in genomic databases.

    • Beyond variant intepretation

      A glimpse into ethical implications and the future of the genomic variation fields.

    • Your learning outcomes

      Challenge your new knowledge and skills acquired in this course.

When would you like to start?

Start straight away and join a global classroom of learners. If the course hasn’t started yet you’ll see the future date listed below.

Learning on this course

If you'd like to take part while our educators are leading the course, they'll be joining the discussions, in the comments, between these dates:

  • 29 Jul 2024 - 18 Aug 2024

On every step of the course you can meet other learners, share your ideas and join in with active discussions in the comments.

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

Who is the 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.

Who will you learn with?

Professor Katta Girisha is a clinical geneticist and directs the molecular genetics laboratory in the College of Medicine and Health Sciences at the Sultan Qaboos University

I am the DECIPHER Project Leader at EMBL-EBI. DECIPHER is an international web platform that shares rare disease phenotype-linked variant data and provides dynamic variant interpretation interfaces.

I am a Medical Research Scientist and Associate Professor in the School of Clinical Medicine at the University of the Witwatersrand.

Associate Professor Amanda Krause is a Medical Geneticist and currently Head of the Division of Human Genetics, NHLS, and School of Pathology, University of the Witwatersrand.

Who developed the course?

Wellcome Connecting Science

Wellcome Connecting Science develops and delivers open postgraduates courses and conferences focused on biomedicine.

What's included?

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
  • Learning on FutureLearn

    Your learning, your rules

    • Courses are split into weeks, activities, and steps to help you keep track of your learning
    • Learn through a mix of bite-sized videos, long- and short-form articles, audio, and practical activities
    • Stay motivated by using the Progress page to keep track of your step completion and assessment scores

    Join a global classroom

    • Experience the power of social learning, and get inspired by an international network of learners
    • Share ideas with your peers and course educators on every step of the course
    • Join the conversation by reading, @ing, liking, bookmarking, and replying to comments from others

    Map your progress

    • As you work through the course, use notifications and the Progress page to guide your learning
    • Whenever you’re ready, mark each step as complete, you’re in control
    • Complete 90% of course steps and all of the assessments to earn your certificate

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