Variant detection using Galaxy (18-19 September 2018)

Tue, 18/09/2018 - 09:00 to Wed, 19/09/2018 - 13:00

Recommended Participants

Biologists and other life scientists planning to work with next-generation sequencing data for small variant detection. Participants must bring their own laptops with wireless network capability.


  • Access and use of the Galaxy bioinformatics analysis platform
  • Quality control and filtering of next-generation sequencing data
  • Next-generation sequencing read mapping
  • Visualisation of mapped reads with the Integrative Genomics Viewer
  • Use of and comparison of software applications to call genomic variants
  • Filtering and screening protocols to generate lists of high-confidence SNPs
  • Initial annotation of the predicted biological impact of identified variants

Learning Objectives: 

  • Perform QC evaluation and filtering on next-generation sequencing data
  • Select and use relevant variant detection software and apply appropriate quality filters to screen variants
  • View variant and sequence data using the Integrative Genomics Viewer (IGV)
  • Carry out preliminary functional annotation of predicted variants
Room 3.146 Queensland Bioscience Precinct The University of Queensland St Lucia Qld 4072