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Clinical analysis of NGS data


THE COURSE IS CANCELLED DUE TO COVID-19! An email has been sent to all participants on our list. New date for the fall will be announced. Those who have been admitted to the course will get first priority.

For traveling students: Please contact your travel agent/ travel insurance before you contact us. We have many request and are trying to answer all but it takes some time. 

Dates: March 16-20, 2020

Location: Grand Hotel Terminus, Bergen

Lecturers: Kim Brügger

Invited lecturers:

Dr Howard Martin, Principal Clinical Scientist, Regional genetics laboratory, Cambidge, England
Kidane M. Tekle, Senior Engineer, CBU, UIB
Dr. Korbinian Bösl, Senior Engineer, CBU, UIB

Recommended credits: 5 ECTS

Registration: closed

Registration deadline: February 24th


Course description

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.


Learning outcomes and competence

  • Understand the difference between academic and diagnostic software development and deployment
  • The accreditation procedure related to ISO 15189 with an emphasis on software development and deployment.
  • Be able to perform a validation of a pipeline to ensure it is suitable for diagnostic service
  • Generate a gene panel for a rare disease
  • Implement, deploy and run a clinical NGS pipeline



Basic knowledge of bioinformatics.
Familiarity with Next Generation Sequencing, and especially DNA analysis pipelines. An knowledge about clinical environments is an advantage.

 Course program

  Monday Tueday Wednesday Thursday Friday
Morning (9-12.30)   Designing a clinical test Data management & tracking Acquiring new hardware &
Secure compute environments
Group reflection preperations &
Group presentations
Lunch (12.30-13.00)          
Afternoon (13.00-16.00) Welcome & The clinical mindset Validation & QA Accreditation & SOPs Professional Software development Final presentation &