Hands-on for 'Exome sequencing data analysis for diagnosing a genetic disease' tutorial

The questions this addresses are:
- 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?

\nThe objectives are:
- 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


Additional information

Target audience: Students

Resource type: hands-on tutorial

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

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

Scientific topics: Genetic variation