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

Course date: 27 May 2013 - 29 May 2013
Location: Erasmus MC, OWC-39 & 22

Click here for details of programme
This course is fully booked! You can still register, but will be placed on a waiting list.

NBIC's NGS Genomic Resequencing / Variant Calling course is an expert course that extends upon the basic NGS data analysis course to apply Next Generation Sequencing data as diagnostic tool in the hospital.

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 dagnostic emphasis.
The afternoon of Day 1 & Day 2 is reserverd 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 ethical and legal issues of NGS in the clinic. 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 diagnotics and data sharing concludes the day.

Target audience
This course is intended for bioinformaticians, researchers and molecular & clinical geneticists. The mixed programma will appeal to all those requiring a solid background in the application of NGS techniques for genetic diagnosis of patient. The course is intended for people with a basic understanding and experience in (NGS) data analysis or the application of NGS-based diagnostic tool.

Registration for this course is done via the NBIC website, at:

The course will be held at the Erasmus Medical Center, Medical Faculty, at the 'Onderwijscentrum' (Educational Centre).

  • The course will start in lecture room no. 39, until 13.00.
  • The remainder of the course will be held in computer room no. 22.

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

Registration fees

  • 250 for PhD students (200 for 2 days)
  • 500 for researchers at universities or non-profit research institutes (400 for 2 days)
  • 1000 for researchers working in for-profit organisations (industry) (800 for 2 days)
  • researchers working for a NBIC Industry Partner receive a 25% discount and pay 750 (600 for 2 days).
  • Participants working in a CGD-project (Centre for Genome Diagnostics) receive a 25% discount on the relevant fee. 

Click here for details of programme This course is fully booked! You can still register, but will be placed on a waiting list.

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