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NBIC advanced NGS course Genomic Resequencing: "Variant Detection and Interpretation in a Diagnostic Context"

General info

27 May 2013 - 29 May 2013 
Erasmus MC, Rotterdam, the Netherlands
Read Mapping, Variant Calling, Quality Control, Annotation of Variants, Computational Predictions, Evaluation and Reporting of results, Clinical Interpretation, Clinical Relevance
Christian Gilissen
Dunnen, den Johan T. Prof. dr.
Christian Gilissen
Dunnen, den Johan T. Prof. dr.
Jasper Saris
Patrick Koks
Terry Vrijenhoek


The NBIC advanced NGS course "Genomic Resequencing" focuses on the application of exome or whole genome sequencing  as a research and diagnostic tool for the detection of mutations and variants with a clinical relevance. This is a three-day course with a 'shifting focus' from the bioinformaticians' and molecular geneticists' practice on day 1 to the daily routine of the clinical geneticist on day 3.

Day 1 consists of an introduction to NGS techniques followed by specialised lectures on sample preparation, enrichment technologies and on the mapping of sequencing data.

Day 2 will continue with lectures on variant calling, annotation, and interpretation with a diagnostic emphasis.

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 the practical issues of applying NGS in daily clinical practice. Several real-life studies where NGS has been applied in the clinic will presented. There will be a forum discussion between researchers and clinicians about mutual expectations, implications of NGS on diagnostics, ethics and data sharing.


The Application form can be filled in here.

Target audience

This course is intended for laboratory specialists and clinical geneticists, bioinformaticians responsible for NGS data analysis, and researchers. The mixed program will appeal to those who require a solid background knowledge of all aspects related to the application of NGS techniques for the genetic diagnosis of patients in the clinic. The course is intended for people with a basic understanding and experience in (NGS) data analysis or the application of NGS-based diagnostic tools.


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