The programme will include lectures, discussions and hands-on exercises covering the following topics: Modes of inheritance African population reference datasets Experimental design for NGS studies in monogenic diseases Workflow QC Variant analysis pipeline Variant annotation Variant filtering Interpretation of genetic variants Ethical issues of incidental findings and variants of unknown significance
-Formulate appropriate NGS study designs for rare monogenic disorders -Evaluate the content, data, annotations and use of databases and web-based genetic resources and tools -Appreciate basic principles and concepts of analysis and interpretation of NGS data -Be aware of appropriate methods, tools and resources in analysis and interpretation of NGS data with respect to rare monogenic diseases.