Course Genome Resequencing in Medical Diagnostics 2017

This is the 4th Edition of the Three Day Course on Variant Detection and Interpretation in a Diagnostic Context.


19 – 21 September 2017


VKGL/VKGN ‘NGS in DNA diagnostics’ is a course aimed at Genomic Resequencing in a Medical Diagnostic Context, i.e to apply Next Generation Sequencing data as diagnostic tool in the hospital. Lectures will be accompanied with hands-on exploration.

Program Outline

  • Day 1 consists of an introduction to NGS techniques followed by specialised lectures on sample preparation, enrichment technologies and read mapping.
  • Day 2 will continue with lectures on variant calling, annotation and interpretation with a diagnostic emphasis applied to Gene Capturing Panels, Exome Screening and CNV analysis.
  • The afternoon of Day 1 & Day 2 is reserved for workshops and software demonstrations. Real data will be used where possible in hands-on tutorials using both commercial and open source software.
  • Day 3 focuses on impact of results in the lab and ethical and legal issues of NGS in the clinical application. Real-life applications of NGS in the clinic will be presented. A forum discussion between researchers and clinicians about mutual expectations, ethics, implications of NGS on diagnostics and data sharing concludes the day.

Course material

To be added after the course.

Target audience

This course is intended for bioinformaticians, researchers and molecular & clinical geneticists. The mixed programme will appeal to all those requiring a solid background in the application of NGS techniques for (routine) genetic diagnosis of a patient. The course will be mainly in English.

Organisation, Accreditation and Registration

The course is a joint effort from individuals of the NVHG/VKGL/VKGN (diagnostic) community of The Netherlands, and has been awarded:

  • 17 points by the VKGN.
  • 18 points by the CMI (College Medisch Immunologen) – part of the NVvI (Dutch Society of Immunology)
  • VKGL-members may contact the VKGL afterwards with their certificate of participation to acquire their points. 


This course including self-study is 1,0 ECTS.

Organisers: Jasper Saris, Christian Gilissen, Rob van der Luijt, Johan den Dunnen

Contact person: Mrs. S. Ghiraw,

Course website: link to course website

This course including self-study is 1,0 ECTS.

Previous editions:

2016 edition
2015 edition
2014 edition