Genome Resequencing: Variant Detection and Interpretation in a Diagnostic Context
More information about this year’s issue can be found here[LINK].
We are listening to the comments of participants who evaluate our courses. Therefore, we are updating the course programme significantly. Click here for the preliminary 2013 programme [LINK]. At the bottom of this page you can find the slides from last years’ lectures.
Registration is possible through the application form.
For more information about the registration or logistics you can contact Patrick Koks.
- Johan den Dunnen (Leiden UMC)
- Robert Hofstra (Erasmus MC)
- Victor Guryev (UMC Groningen)
- Helger Yntema (UMC St. Radboud)
- Laurent Francioli (UMC Groningen)
- Lisenka Vissers (UMC St. Radboud)
- Chris Mattocks (Salisbury, UK)
- Julien Tarabeux (institut Curie)
- and many others.
Erasmus MC, Rotterdam, The Netherlands
This course is intended for bioinformaticians, researchers and molecular & clinical geneticists. The varied programme will appeal to those analysing, using or applying NGS techniques for the genetic diagnosis of patients in the clinic. The course is intended for people with experience in (NGS) data analysis or the application of NGS-based diagnostic tools.
Lecture notes (slides) of the 2013 Genomic Resequencing Course in Rotterdam
Genomic Resequencing advanced NGS course lectures by NBIC are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. Based on a work at http://www.nbic.nl/index.php?id=903[LINK].
Day 1: Monday May 27th – NGS based testing (lab specialists)
- Day1_deBruijn_GenomicResequencing_2013.pdf (7.2 mb)[LINK]
Ewart de Bruijn (Hubrecht): Lab methods: exome / genome – presentation
Day 2: Tuesday May 28th – Data Analysis and Variant Interpretation (lab specialists & clinical geneticists)
- Day2_Gilissen_VariantDetection_2013.pdf (869.37 kb)[LINK]
Christian Gilissen (UMCN): Annotation of prioritization of Variants – presentation
- Day2_Santen_GenomeVsExome_2013.pdf (2.18 mb)[LINK]
Gijs Santen (LUMC): Genome versus Exome – presentation
Day 3: Wednesday May 29th – NGS; Clinical Interpretation & Counseling (clinical geneticists)
- Day3_Yntema_whatcanItellthepatient_2013.pdf (1.06 mb)[LINK]
Helger Yntema (UMCN): What can I tell the patient? – presentation
- Day3_Vissers_DiagnosticExomeSequencingID_2013.pdf (955.32 kb)[LINK]
Arthur van der Wijngaard (MUMC): Data management; black boxes – presentationand queries – presentation
- Day3_Slegtenhorst_TargetedSeqinDNADiagnostics_2013.pdf (1.57 mb)[LINK]
Corrette Ploem (AMC): Legal framework for NGS-based diagnostics – presentation
- Day3_vGijn_NextGenPIDarray_2013.pdf (1.86 mb)[LINK]
Lisenka Vissers (UMCN): Diagnostics in sporadic disorders – presentation
- Day3_Zelst_WESinDiagnosticSetting_2013.pdf (1.52 mb)[LINK]
Marjon van Slegtenhorst (EMC): Summary first 100 cardio gene-panel analysis – presentation
- Day3_Hofstra_FunctionalValidation_2013.pdf (2.11 mb)[LINK]
Marielle van Gijn (UMCU): Labchip – presentation