As a part of our Genomic Medicine 2018 Nijmegen event, our team is also organizing a CLINICAL NGS DATA ANALYSIS WORKSHOP on 9th October at the Concertgebouw in Nijmegen. This part of the event will be led by Genome Diagnostics Nijmegen. The emphasis of the workshop is on the clinical interpretation of variants – a bottleneck in data analysis that is increasingly being requested by delegates to our conferences and workshops. During the workshop the attendees used real patient data which must be deleted at the end of the workshop.
The course was intended for people who are not too experienced in data-analysis but have already some knowledge about NGS.
The course started by providing a good overview of the raw sequencing data, an explanation about the formats and how delegates can check the quality of the data. Following on from this and during the NGS Diagnostics interpretation sections delegates learnt how to work with the analyzed data, how to interpret the data and how to prioritize the variants to look for the interesting ones.
At the conclusion of the course, delegates were asked to solve diagnostic patient cases by searching for the pathogenic variant(s).