Traditionally molecular diagnostic analysis has relied on microarrays, sequencing single genes with capillary sequencing or looking at chromosomes through a microscope. With the revolution of Next Generation Sequencing (NGS) it is now possible to replace many of the tests by sequencing a diagnostic gene panel, all the genes or even the whole genome of a patient in a single experiment. However though NGS analysis is well established in the academic setting, translating this into a clinical services is not a trivial task. This is due to the fact that a wrong diagnosis can lead to no or wrong treatment, or even to the termination of a life! As these consequences of a wrong diagnosis are so dire extra controls and legislation have been put in place to ensure the safety for the patients.

This course will introduce, explore and assess the tools, procedures and requirements needed for making the translation from academic to clinical software. This will be done through a series of lectures and group discussions culminating in a small group project.