Day 2 – Genome resequencing course 2015

The presentations of day 2 of the course (Wednesday September 23, 2015) can be found below:

Thomas Kuilman (NKI): CNV calling in Gene Panels, Exomes and WGS
Day 2 Kuilman (2 MB)

Nienke vd Stoep (LUMC): Individual Variant Interpretation
Day 2 Stoep vd N Individual Variant Interpretation (2,5 MB)

Mariëlle van Gijn (UMCU): Gene Panel Experience
Day 2 Van Gijn Gene Panel Experience (679 KB)

Claudia Ruivenkamp (LUMC): Tiered WES or Exome masking (icm LOVD+)
Day 2 Ruivenkamp Tiered WESpdf (1,6 MB)

Erik Sistermans (VUMC): NIPT – is trisomy screening the lower limit? Is 2Mb resolution feasible?
Day 2 Sistermans NIPT (3 MB)

Maartje Vogel (NKI): Somatic Mutation Detection in Cancer
Day 2 Vogel Somatic Mutation Detection (1 MB)

Ron Wevers (UMCRadboud): HT-Metabolomics
Day 2 Wevers HT metabolics (2 MB)

Workshop – Sophia Genetics
Day 1 SophiaGenetics Workshop (2 MB)

Verena Tischler & Koenraad Eycken: Sophia Genetics

Patrick Dekker & Sara Nema: Qiagen Biomedical Workbench (aka CLC-bio)

Saskia Hilteman, Frank Sleutels, Andrew Stubbs ea: GalaXy, free (targeted-) WES and RNAseq pipeline for single and automated analysis