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Aims

  • Introduce Variant Calling analysis

  • Learn to install Nextflow

  • Test the execution of the nf-core/sarek pipeline using test data

  • Run the nf-core/sarek pipeline using real public data including family trio(s) and liver samples

  • Evaluate the output of variant calling and annotation

  • Overview of downstream variant calling analysis using R (hands-on session will be on Session 5)

  • Test and run the nextflow nf-core/sarek pipeline in the HPC cluster using public data. Exercises include:

    • Running a test to verify the execution of the pipeline

    • Running the sarek variant calling pipeline with a HapMap trio data

    • Running the sarek variant calling pipeline with liver samples

Introduction

Overview of the Nextflow nf-core/sarek variant calling pipeline

Source : https://nf-co.re/sarek/3.2.3

image-20240506-234533.png

The sarek pipeline is designed to screen for inherited germline or somatic mutations in samples for which there is a reference genome sequence.

image-20240508-064345.png

Exercises:

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