Workshop on NGS in the clinic – mistakes and quality assurance

3 weeks ago

Date: Saturday June 15th, 2019.

Time: 10:30 – 12:00

Venue / Room:  Hall C

Workshop Organisers:   Gijs Santen, Helger Yntema, Weronika Gutowska-Ding

About the Workshop:

Last year the NGS in the clinic workshop had several talks about errors in bio-informatic pipelines. These talks inspired us to think about how we as a community can learn from each other’s mistakes. Although it can sometimes be difficult to share mistakes with colleagues, we have to put the patient’s interest first and learn from them!

We have therefore made a questionnaire to ask the diagnostic and research community if there is a need for a platform to share pitfalls, and how we should go about this. We invite everyone interested to complete the questionnaire, which can be found here:

The 2019 workshop will build on last year’s workshop. We will start with two speakers, follow with the results of our questionnaire and end with a 45-min interactive debate on the next steps, using provocative statements to spark the discussion.

Programme Overview (or follow this LINK to view it on the ESHG webpage):

Common mistakes and challenges in clinical NGS QC/QA
Christophe Roos, Euformatics Oy

Bio-informatic learnings from the 100.000 genomes project
Michael Muller, Genomics England

Presentation of questionnaire results

Discussion with statements ‘How to use NGS mistakes to help patients’

Next: Updated policy on use of HGVS nomenclature