Day 2 – Genome Resequencing in Medical Diagnostics course

The presentations of day 2 (October 29th, 2014) of the course can be found below:

Victor Guryev (UMCG): CNV calling in Gene Panels, Exomes and WGS
Day 2 Guryev CNV calling in Gene Panels
 (PDF file 2 MB)

Nienke vd Stoep (LUMC): Individual Variant Interpretation
Day 2 Stoep vd Individual Variant Interpretation (PDF file 861 KB)

Jan Jongbloed (UMCG): Cardio Gene Panel Experience
Day 2 Jongbloed Cardio Gene Panel (PDF file 2 MB)

Marjon van Slegtenhorst: Multiple Gene Panel approach vs Exome masking
Day 2 Slegtenhorst v Targeted sequencing (PDF file 645 MB)

Elles Boon (LUMC): NIPT – is trisomy screening the lower limit?
Day 2 Boon NIPT (PDF file 2 MB)

Marco Koudijs (UMCU): Somatic mutation detection in Cancer
Day 2 Koudijs Somatic mutation detection (PDF file 1,6 MB)

Ron Wevers (Radboud UMC): HT-metabolomics
Day 2 Wevers HT metabolics (PDF file 2 MB)

Tamara Steijger (Sophia Genetics): Standardizing your clinical dry lab
Day 2 SophiaGenetics Workshop (PDF file 799 KB)