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  NGS bioinformatics quality control and variant annotation for cancer diagnosis

  Streamed from Geneva, 15 March 2021

  This page is addressed to registered participants. To access course description and application form, please click here. For any assistance, please contact training@sib.swiss.
• Select topic Detailed program and venue

  Detailed program and venue
  Venue: Streamed in Zoom
  

  Schedule: from 9h15 to 17h15, with a lunch break and 2 coffee breaks.

  
  

  PARTS I & II: NGS BIOINFORMATICS PIPELINE & QUALITY CONTROL (QC)

  09:15-09:35 Introduction: tumor board context, example with lung cancer explaining spectrum of detectable alterations. Dr. Timothée Olivier
  

  09:35-10:05 Introduction to NGS technologies (Dr. Aitana Lebrand)
  

  10:05-10:45 Overview of a bioinformatics analysis pipeline and basic QC (Dr. Aitana Lebrand)
  

  10:45-11:00 Break
  

  11:00-12:30 Hands-on on Galaxy: using Galaxy to filter variants based on quality filters and variant allele frequency. (Dr. Yann Christinat)
  

  12:30-13:30 Break

  
  

  PART III: ANNOTATION
  

  13:30-14:45 Clinical significance: pathogenicity & actionability. Predict variant effect and impact using bioinformatics tools. Annotation using literature and other public databases. (Dr. Aitana Lebrand)
  

  14:45-15:00 Break

  15:00-17:00 Hands-on on variant annotation. (Dr. Yann Christinat)
  

  17:00-17:15 Wrap-up of the course and take-home messages. (Dr. Yann Christinat & Dr. Aitana Lebrand)
  
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