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
Scientific topics: Genetic variation
External resources:
Activity log
