NGS Analysis for Monogenic Disease in African Populations: 12 - 13 December 2022

Course Overview

Course website

Instructors

• Samuel Adadey, University of Cape Town, South Africa
• Bana Alamad, University of Oxford, UK
• Gerrit Botha, University of Cape Town, South Africa
• Hicham Charoute, Institut Pasteur, Morocco
• Segun Fatumu, LSHTM, Uganda
• Christian Gilissen, Radbound University, Netherlands
• Youssef Idaghdour, NYU, Abu Dhabi
• Valentina Ngo Bitoungui, Dschang University, Cameroon
• Ben Moore, EMBL-EBI, UK
• Maria Mudau, University of the Witwatersrand, South Africa
• Nchangwi Syntia, SADaCC, South Africa
• Catherine Tcheandjieu, UCSF, USA
• Ambroise Wonkam, UCT, South Africa
• Mohamed Zahir Alimohamed, Muhimbili University of Health and Allied Sciences, Tanzania

Organisers

• Alice Matimba, Wellcome Connecting Science, UK
• Vicky Nembaware, SADaCC, South Africa
• Khalid Sadki, SM2GH, Morocco
• Isabela Malta, Wellcome Connecting Science, UK
• Karon Chappell, Wellcome Connecting Science, UK
• Martin Aslett, Wellcome Connecting Science, UK

Timetable

Overview

• Pre-workshop:

  • Human Genetics Basics
  • Genomes, Genes & Genome Browsers

• Monday 12 December 2022:

  • Session 1: Reference Variation Datasets
  • Session 2: NGS Technologies
  • Session 3: Variant Analysis & Workflow QC
  • Session 4: Mapping, Variant Calling, CNVs
  • Session 5: Variant Annotation
  • Session 6: Variant Filtering Strategies & Prioritisation
  • Session 7: Clinical Significance, Validity/Utility
  • Session 8: Functional Characterisation - Model Systems

• Tuesday 13 December 2022:

  • Session 9: Interpretation of Genetic Variants
  • Session 10: Case Study Exercises
  • Session 11: International Networds
  • Session 12: Limitations of Genome Analysis Methods
  • Session 13: Ethical Considerations

Detailed timetable

Download here

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License

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