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?
The 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
Target audience: Students
Resource type: hands-on tutorial
Contributors: Anika Erxleben, Björn Grüning, Bérénice Batut, Torsten Houwaart, Wolfgang Maier