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).
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.
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
RT @dinekeverbeek: Dr. Lisette Koens spreekt over bewegingsstoornissen bij stofwisselingsziekten. Ook zeer relevant voor ataxie patiënten!…