Day 3 – Genome Resequencing in Medical Diagnostics course

The presentations of day 3 of the course (October 30st, 2014) can be found below:

Gert Matthijs (KU Leuven): Eurogentest guidelines (and AMCG guidelines update)
Day 3 Matthijs Eurogentest Guidelines (PDF file 729 KB)

Dorien Lugtenberg (UMCN): Informed Consent; What can I tell the doctor? & Incidental Findings; What can I tell the patient?
Day 3 Lugtenberg Informed Consent (PDF file 2MB)

Corrette Ploem (AMC): Application of NGS-based diagnostics in regular care – The legal framework
Day 3 Ploem Medical Ethics (PDF file 49 KB)

Christian Gilissen (Radboud UMC): Whole Genome Sequencing in the clinic
Day 3 Gillissen Whole Genome Sequencing

Rolf Sijmons (UMCG): Using HPO fenotyping & Database
Day 3 Sijmons Using HPO fenotyping

Jan Jongbloed (UMCG) WGS for Neonates in trouble
Day 3 Jongbloed WGS for Neonates

Frans Verheijen (ErasmusMC): Functional validation of variants in a diagnostic context
Day 3 Verheijen Functional validation of variants (PDF file 1,4 MB)