MGC-ZWNL VKGL & VKGN MolMed.nl Programme NGS course: Genomic Resequencing in Medical Diagnostics 2014 Date: Tuesday 28th – Thursday 30th October Venue: Onderwijscentrum, Erasmus MC, Rotterdam VKGL & VKGN accreditatie: 6 punten per hele dag Jasper Saris, Christian Gilissen, Rob van der Luijt, Johan den Dunnen Third Edition of the Three Day Course on Variant Detection and Interpretation in a Diagnostic Context The Book of Life… hoe lees je het; weet je wat je leest; wat betekent het eigenlijk? Day 1 – Tuesday 28th; NGS-based testing (aimed to: Lab Specialists & Bioinformaticians) Time Title (preliminary) Speaker (center) 09.00-9.30 9.30-10.00 Coffee & Registration Characteristics of Sequencing Methods 10.00-10.45 10.45-11.15 Enrichment Techniques, Amplified panel / exome Coffee break 11.15-12.00 Mapping sequence reads & Calling variants 12.00-12.30 WES or WGS… statistics & power in practice 12.15-13.15 Lunch 13.15-14.00 Experiment setup, QC & SNP profiling panel for sample tracking Chris Mattocks (NGRL Wessex, UK)– 14.00-14.30 Annotation of variants Morris Swertz (UMCG) 14.30- 15.00 Parallel S1 15.00-17.00 Coffee break Introduction workshops (2x10 min) Parallel workshops (3 x 2h) Location (route) Johan den Dunnen (LUMC) Wilfred van Ijcken (Erasmus MC) Laurent Fracioli (UMCG) Gijs Santen (LUMC) TBC, a.o. NextGene, Galaxy, Falco & Ingenuity demonstration and hands-on MGC-ZWNL VKGL & VKGN MolMed.nl Day2 - Wednesday 29th; Data analysis and variant interpretation (aimed to: lab specialists and Genetic Counselors) Time Title (preliminary) 9.00 - 9.45 Speaker 9.45 - 10.15 10.15 - 10.45 CNV calling in Gene Panels, Exomes and WGS Individual Variant Interpretation Coffee break Victor Guryev (UMCG) Nienke vd Stoep (LUMC) 10.45 - 11.15 Cardio Gene Panel Experience 11.15 - 11.45 11.45 - 12.15 Multiple Gene Panel approach vs Exome masking NIPT – is trisomy screening the lower limit? Jan Jongbloed (UMCG) Marjon van Slegtenhorst (Erasmus MC) Elles Boon (LUMC) 12.15 - 13.15 Lunch 13.15 - 13.45 Somatic mutation detection in Cancer 13.45 – 14.15 HT-metabolomics 14.15 - 14.45 Coffee break 15.00 – 17.00 Introduction workshops (2x10 min) Parallel workshops (3 x 2h) Location (route) Marco Koudijs (UMCU) Ron Wevers (UMCRadboud) TBC, a.o. NextGene, Galaxy, Falco & Ingenuity demonstration and hands-on Day3 Thursday 30th; NGS – results interpretation and counseling issues (aimed to: lab specialists and Genetic Counselors) Time Title (preliminary) Speaker 9.00-9.30 Eurogentest guidelines (en AMCG guidelines update) Gert Matthijs (KU Leuven) 9.30-10.00 Informed Consent; What can I tell the doctor? & Incidental Findings; What can I tell the patient? Helger Yntema (UMCN) 10.00-10.30 Medical Ethics & Genomics Current Legal framework en FAQ (Dutch) Corrette Ploem (AMC) 10.30-11.00 No coffee in the lecture room! 11.00-11.45 11.45-12.30 Whole Genome Sequencing in the clinic WGS for Neonates in trouble 12.30-13.30 Lunch 13.30-14.15 Using HPO fenotyping & Databases 14.15-15.00 15.00-15.30 Functional validation of variants in a diagnostic context No coffee in the lecture room! 15.30-16.30 Panel Discussion – één jaar verder 16.30-17.00 Return badges & Hand in evaluation forms Christian Gilissen (UMCRadboud) Jan Jongbloed (UMCG) Rolf Sijmons (UMCG) Frans Verheijen (Erasmus MC) Terry Vrijenhoek (UMCU) Location (route)