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


Additional information

Resource type: Tutorial

Authors: bebatut, torhou, erxleben, bgruening