Learning outcomes

After completing this module you should be able to:

Be aware of the genetic heterogeneity of ID and the diagnostic yield of different approaches to investigation

Understand the challenges associated with interpreting variants identified by next generation sequencing (NGS) and the principles behind assigning causality

Understand the strengths and weaknesses of a targeted sequencing approach as compared to trio-exome analyses/ whole genome sequencing (WGS).

Written by:

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, et al. (http://learning.bmj.com/learning/module-intro/.html?moduleId=10051729&searchTerm=“Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders ”&page=1&locale=en_GB)