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

Course Overview

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

License

This work is licensed under a Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0).