Variant Analysis workshop, Feb 6 -9

Overview

This course aims to provide an introduction to the principles of short variant discovery (both germline and somatic) from short read data. We will look at a complete workflow, from data QC to functional interpretation of variant calls. The practical sessions will focus on running the GATK pipeline from the Broad institute.

https://gatk.broadinstitute.org/hc/en-us

Who this course is for

This course is intended for researchers who need to analyse genomic data in order to call genomic variants. Aside from a basic understanding of molecular biology, attendees must have a working knowledge of how to use the Linux BASH command line - our 1-day "Linux for bioinformatics" course is a suitable background.

Instructor

Frances Turner – Bioinformatician and Analyst, Edinburgh Genomics

Heleen De Weerd - Bioinformatician and Analyst, Edinburgh Genomics

Workshop format

The workshop consists of presentations and hands-on tutorials.

Topics covered

By the end of the course students will have covered:

  • Introduction to short read data

  • Whole genome sequencing (WGS) data QC

  • Data preprocessing

  • Short variant discovery

  • Germline joint variant calling

  • Genotype refinement

  • Variant filtering and evaluation

  • Variant annotation and interpretation

  • Somatic short variant discovery

Related Links

Edinburgh Genomics