In collaboration with the joint 11th Conference of the African Society of Human Genetics (AfSHG) and the 12th Meeting of the H3Africa Consortium, 19-21 September 2018 in Kigali, Rwanda, 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.  Africa-wide consortia such as the Human Heredity and Health in Africa (H3Africa) supported by the African Society of Human Genetics (AfSHG) and funding organisations including the National Institutes of Health (NIH) (USA) and Wellcome (UK) have supported skills development and infrastructure building.  

This workshop aims to provide an overview of NGS genomic study approaches and analysis pipelines for the discovery and validation of rare monogenic disease-causing variants, with a specific focus on special considerations for African families. 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 with a focus on monogenic diseases.

Target audience
The workshop is aimed at researchers and clinicians/healthcare professionals in the field of human genomics who use or plan to use NGS approaches in their research or clinical work.

Course Venue and Accommodation
workshop will be held at the BPN Conference Hall in Kigali, Rwanda 22-23 September 2018 and is free to attend. Accommodation will be provided free of charge for participants not based in Kigali (up to a maximum of 3 nights: arriving Friday 21, departing Monday 24 September).

Places are limited and will be awarded on merit. The workshop will be held in English.

Application Deadline:
2 August 2018


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