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NGS Analysis for Monogenic Disease in African Populations. Rabat, Morocco Meeting: 12-13 December 2022

As the 14th Conference of the African Society of Human Genetics (AfSHG), the 2nd Moroccan Society of Human Genetics and, 12-13 December, 2022 in Rabat, Morocco and Wellcome Connecting Science we are delighted to offer this free-to-attend, 2-day workshop on the application of next generation sequencing (NGS) technologies for analysing monogenic disease in African populations.

Use of NGS technologies encompassing gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS) in human genomics are increasingly becoming accessible for research and clinical diagnostics in Africa. This workshop aims to provide an overview of NGS genomic study approaches

  • analysis pipelines for the discovery
  • validation of rare monogenic disease-causing variants, with a specific focus on special considerations for African case-studies

Participants will be introduced to the key electronic resources that can be harnessed to assess the potential pathogenicity of variants. Case studies will be incorporated to demonstrate key steps in research and potential utility in diagnostics focusing on monogenic diseases.

Date: - CAT

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