NGS in DNA Diagnostics Course

The course is 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.

Date: Oct 28-30, 2014

Target audience: bioinformaticians, researchers and molecular & clinical geneticists.

Program: 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.

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