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Sequence analysis: practical

UZH BIO392 HS23 - Day 08


The morning of day 08 will feature a hands-on practical of the bioinformatics pipeline discussed on the afternoon of day 07. The day will start with a brief refresher on the starting point of our pipeline: files with raw sequencing reads and a reference genome. After this, time will be spent on generating alignments and variant calls from the provided data, applying several widely used bioinformatics tools along the way.


The afternoon will be spent on reflecting on (or finishing) the steps from the practical. Afterwards, literature and/or slides will be provided to provide more background on Short Tandem Repeats (STRs); What are they? Why can they be problematic to analyse? Why is their variation relevant? These questions should prepare you for the morning of day 10, where the outputs of the bioinformatics pipeline will be analyses and interpreted.

  • 09:00 - 10:00: Explore data & file structure, read instructions
  • 10:00 - 12:00: Run bioinformatics pipeline, ask & answer questions
  • 12:00 - 13:00: Break
  • 13:00 - 14:00: Presentation on short tandem repeats
  • 14:00 - ?: Reading provided literature, asking questions