Day 2 – Genome resequencing course 2016

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