NGS in DNA Diagnostics Course


Location: Erasmus MC

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Course 
NGS in DNA diagnostics

Description
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 medical practice. 
Lectures will be accompanied with hands-on exploration of data and software. 
 
Program Outline
Day 1 
Consists of an introduction to NGS techniques followed by specialized 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 some CNV analysis.

The afternoons of Day 1 & Day 2 
Are 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. 


Audience and participation
This course is intended for molecular and clinical geneticists, and bioinformaticians and researchers in the field and to some extent pathologists. 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.

Organizer
Jasper Saris

The course is a joint effort from individuals of the NVHG/VKGL/VKGN (diagnostic) community of The Netherlands. Accreditation will be filed for at VKGL and VKGN (6 points; GAIA registration will be applied for as well).


 
Date, Time & Location
T.b.a.
9.30-17.00


ECTS
Full participation is  1,0 ECTS.

Maps
www.molmed.nl/maps/maps.asp

 
Course fees:
If not otherwise indicated, Erasmus MC PhD courses are free for Erasmus MC PhD candidates and Research Master students who use them as electives. Erasmus MC employees pay €100/day. External PhD candidates pay €100/day. Commercial and other external participants pay €200/day. There is one fee for the entire course, there is no reduction for partial participation.

Cancellation policy:
Erasmus MC Graduate School charges a cancellation fee of €75 for all cancellations made more than 22 days before the start of the course. Fifty percent of the course fee, with a minimum of €75, is due for cancellations made between 21 and 10 days before the start date. The full course fee is due for cancellations made less than 10 days before the start date, or in case of no-show without cancellation. For Erasmus MC PhD candidates the full course fee in case of the cancellation policy will be the equivalent of the number of course days times €100. 

All invoices will be sent to the head of department or for external participants to the e-mail address provided upon registration. 

Those who register for a PhD course agree with these financial conditions.




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