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Genomic resource usage, sequence comparison, and sequence analysis

UZH BIO392 HS23 - Day 07

On this day, we will do hands-on exercises using some clinical variant annotation resources, and provide an overview of BLAST and a typical bioinformatics pipeline.


  • exercise on using ClinVar and ClinGen
  • introduction of BLAST


The aim of day 07's afternoon session will be to give an overview of a typical bioinformatics pipeline. The different steps and computational tools that are needed to get from raw sequencing reads to variant calls will be introduced. Finally, we will discuss why repetitive genomic regions are difficult to analyse, as this will be the topic of the practical work on days 08 and 10.