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Genomic resequencing: variant detection and interpretation in a diagnostic context

General info

04 Apr 2012 - 05 Apr 2012 
UMC Radboud, Nijmegen
Mapping of sequence reads, Variant Calling, Quality Control, Annotation of Variants, Computational Predictions, Evaluation and Reporting of results, specifically within a diagnostic context
NBIC, LUMC, UMC Radboud and CGD
Terry Vrijenhoek
Christian Gilissen
Patrick Koks


The NGS Genomic Resequencing/Variant Calling course is a 2-day expert application course that extends upon the 3-day basic NextGen Seqencing data analysis course, although this course is not a prerequisite. A short introduction in the techniques for genomic Next Generation Sequencing (hardware) and sample preparation (wet lab and design) will be followed by lectures and practicals (software) on data analysis and interpretation, all with a diagnostic emphasis.
Furthermore there will be room for discussion on the interaction between bioinformaticians and clinicians and mutual expectations, implications of NGS on diagnostics, ethics and data sharing.
Where possible real data will be used in hands-on software application tutorials, otherwise in demo’s.

Targeted audience
This course is intended for researchers and (molecular) clinical specialists working in a diagnostic setting, and who apply or are planning to apply next generation sequencing for the genetic diagnosis of patients. This is an expert course for people with experience in (NGS) data analysis and/or application of diagnostic tools in the clinic.

Confirmed speakers

  • Johan den Dunnen
  • Alexander Hoischen
  • Christian Gilissen
  • Leon Mei
  • Chris Mattocks
  • Ben Turner
  • Robert Akkers


The next occurrence of this course is being planned for end 2012.


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