Structural Variant Analysis

Bioinformatics Training Platform (BTP) Module: Structural Variant Analysis

• Topic
  • Structural Variant Analysis
• Target Audience
  • Biologists
  • Non-bioinformaticians
  • Little to no programming expereience
• Prerequisites
  • None
• Key Learning Outcomes
  • Have been provided with key fundamentals on how paired-end mappings and split-read/soft-clipped read patterns are used in detecting deletions, tandem duplicates, inversions and translocations.
  • Know what important quality control checks need to be evaluated prior to structural variant calling.
  • Have run DELLY on a subset of whole genome next generation sequencing data pertaining to a single human tumour with a matched normal control.
  • Be able to filter high confidence SV predictions.
  • Have gained basic knowledge to interpret the VCF output provided by DELLY.
  • Have used their understanding of distinct SV paired-end mapping and soft-clipped read patterns to visually verify DELLY predicted SVs using IGV.
• Time Required *

License

The contents of this repository are released under the Creative Commons Attribution 3.0 Unported License. For a summary of what this means, please see: http://creativecommons.org/licenses/by/3.0/deed.en_GB