NGS in DNA Diagnostics : BioSB research school

maandag 11 september 2017 - woensdag 13 september 2017 09:00 - 16:30


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.


The course is a joint effort from individuals of the "Nederlandse Vereniging voor Klinische Chemie”, NVKC (18 points).

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.

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 and Registration

The course is a joint effort from individuals of the NVHG/VKGL/VKGN (diagnostic) community of The Netherlands.

The course will be held at the Erasmus Medical Centre, Medical Faculty, at the 'Onderwijscentrum' and computer room C00-6

More information