Introduction to Variant analysis
Contributors
Authors:
Bérénice Batut
Yvan Le Bras
last_modification Last modification: Jul 9, 2021
What is Exome sequencing?
Exome sequencing
= Whole exome sequencing (WES or WXS)
Sequencing of all expressed protein-coding genes in a genome
Exome in Humans
- ~180,000 exons
- 1% of the human genome
- ~30 million base pairs
Goal of exome sequencing
Identify genetic variation that is responsible for both Mendelian and common diseases without the high costs associated with whole-genome sequencing
Exome sequencing is the most efficient way to identify the genetic variants in all of an individual’s genes
Limits
Exome sequencing can not identify genetic variation in
- All genes
- Mitochondrial genes
- “Structural variants”
- Triplet repeat disorders
- Other copy number variants
- Introns
- “Uniparental disomy”
- Control sequences
- Epigenetic changes
- Gene-gene (epistatic) interactions
2 tutorials for training on exome sequencing data analysis
Same goal
Identify and annotate genetic variants in a family with two parents and a child exome data
Similar data analysis approach
### 2 tutorials