Variant Analysis - Exome sequencing data analysis

Exome sequencing means that all protein-coding genes in a genome are sequenced

Questions of the tutorial:

  • How to identify the genetic variation with the use of exome sequencing?
  • What is the pipeline of the process of finding genetic variation which caused the disease?

Objectives of the tutorial:

  • Identification of the genetic variation using the exome sequencing
  • Using FreeBayes calls for variants generating
  • Variant analysis and GEMINI queries

Resource type: Tutorial

Authors: bebatut, torhou, erxleben, bgruening

External resources:
Variant Analysis - Exome sequencing data analysis https://tess.elixir-europe.org/materials/variant-analysis-exome-sequencing-data-analysis Exome sequencing means that all protein-coding genes in a genome are sequenced Questions of the tutorial: - How to identify the genetic variation with the use of exome sequencing? - What is the pipeline of the process of finding genetic variation which caused the disease? Objectives of the tutorial: - Identification of the genetic variation using the exome sequencing - Using FreeBayes calls for variants generating - Variant analysis and GEMINI queries