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e-learning

Exome sequencing data analysis for diagnosing a genetic disease

Abstract

Exome sequencing is a method that enables the selective sequencing of the

About This Material

This is a Hands-on Tutorial from the GTN which is usable either for individual self-study, or as a teaching material in a classroom.

Questions this will address

  • How do you identify genetic variants in samples based on exome sequencing data?
  • How do you, among the set of detected variants, identify candidate causative variants for a given phenotype/disease?

Learning Objectives

  • Jointly call variants and genotypes for a family trio from whole-exome sequencing data
  • Use variant annotation and the observed inheritance pattern of a phenotype to identify candidate causative variants and to prioritize them

Licence: Creative Commons Attribution 4.0 International

Keywords: Variant Analysis

Target audience: Students

Resource type: e-learning

Version: 27

Status: Active

Prerequisites:

  • Introduction to Galaxy Analyses
  • Mapping
  • Quality Control

Learning objectives:

  • Jointly call variants and genotypes for a family trio from whole-exome sequencing data
  • Use variant annotation and the observed inheritance pattern of a phenotype to identify candidate causative variants and to prioritize them

Date modified: 2023-11-09

Date published: 2016-08-19

Authors: Anika Erxleben, Björn Grüning, Bérénice Batut, Torsten Houwaart, Wolfgang Maier

Contributors: Björn Grüning, Bérénice Batut, Ekaterina Polkh, Gildas Le Corguillé, Helena Rasche, Martin Čech, Niall Beard, Nicola Soranzo, Saskia Hiltemann, Wolfgang Maier

Scientific topics: Genetic variation


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