Course Genome Resequencing in Medical Diagnostics 2014


Tuesday 28th – Thursday 30th October 2014


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


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This is the third Edition of the Three Day Course on Variant Detection and Interpretation in a Diagnostic with the title: “The Book of Life… how to read it, what do you read, and what does it actually mean?”


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.

Find a detailed programme outline here

Course Material

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. Accreditation is be filed for at VKGL and VKGN (6 points; GAIA registration is pending).


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


The course will be held at the Erasmus Medical Centre, Medical Faculty, at the ‘Onderwijscentrum’ (Educational Centre, rooms are mentioned ‘OWR nr. NN’).

  • The course will start in lecture room no. 36.
  • Additional rooms will be used depending on the programme.

See for maps of the Erasmus MC, including the Educational centre the MolMed website: