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Variant detection, annotation and clinical interpretation

In this tutorial, we will demonstrate basic pipelines for detecting and interpreting genetic variation from short-read sequencing data. We'll start with the analysis-ready data from CM4.4, performing variant calling on a single sample. We will follow this up with multi-sample variant calling and genotyping, variant annotation, filtering and interpretation.

To get started, go and get the prerequisites.

Contributors

  • Matthieu Miossec
  • Merve Bilici
  • Helen Lockstone
  • Gavin Band