The presentations of day 2 of the course (Wednesday September 21nd 2016) can be found below:
Thomas Kuilman (NKI): CNV calling in Gene Panels, Exomes and WGS
Day 2, Thomas Kuilman – 2 MB
Nienke vd Stoep (LUMC): Individual Variant Interpretation
Day 2, Nienke vd Stoep – 1 MB
Claudia Ruivenkamp (LUMC): Tiered WES or Exome masking (icm LOVD+)
Day 2, Claudia Ruivenkamp – 2 MB
Diane van Opstal (Erasmus MC): NIPT – just fetal trisomy screening or more?
Day 2, Diane van Opstal –
Maartje Vogel (NKI): Somatic Mutation Detection in Cancer
Day 2, Maartje Vogel – 1 MB
Leo Kluitmans (UMCRadboud): HT-Metabolomics
Day 2, Leo Kluitmans – 2 MB
Walter de Valk & Mirjam van den Hout (Erasmus MC): hAwk – WES QC and Variant detection
Day 2, Walter de Valk & Mirjan van den Hout – 1 MB
Gert Thijs (Cartagenia/Agilent): Cartagenia – Bench NGS – Variant Assessment
Day 2, Gert Thijs –
David van Zessen & Andrew Stubbs (Erasmus MC): WES Pedigree Analysis using Galaxy
Day 2, David van Zessen & Andrew Stubbs – 5 MB