NGS Analysis for Monogenic Disease in African Populations

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

Michele Ramsay; Neil Hanchard; Adebowale Adeyemo; Emily Perry; Jane Loveland; Christian Gilisen; Elizabeth Radford; Jennifer Posey
Event Theme/Subject Category: 
Coordinator's name: 
Alice Matimba
Coordinator's email address :
Name of Venue, Institute: 
BPN Conference Centre
City of Venue: 
Country of Venue: 
Organisers/Organizing Body: 
Wellcome Genome Campus Advanced Course and Scientific Conferences (WGC ACSC)
Dates of Event: 
Saturday, September 22, 2018 - 07:00 to Sunday, September 23, 2018 - 16:00
Eligibility & Application Instructions: 
H3Africa Consortium meeting/AfSHG conference attendees - The workshop is open to researchers/clinicians/healthcare professionals, with background knowledge in genetics and who aim to apply NGS analysis methods in their work.
Extra information: 
To apply please follow this link. DEADLINE - 3 August 2018
Targeted Learning Outcomes: 
-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.
SickleInAfrica Project/PI/Working Group: