snpEff

SnpEff is a variant annotation and effect prediction tool. It annotates and predicts the effects of genetic variants (such as amino acid changes).

snpEff Homepage

Available Modules¶

Mahuika

module load snpEff/5.0-Java-11.0.4

snpEff is a genetic variant annotation, and functional effect prediction tool.

Configuration File¶

snpEff requires a one-off configuration of the .config file. The following instructions are a one-off set up of the configuration file required for snpEff.

Load the latest version of the snpEff module.
Make a copy of the snpEff config file, replacing <project_id>, with your project ID.
```
cp $EBROOTSNPEFF/snpEff.config /nesi/project/<project_id>/my_snpEff.config
```
Open themy_snpEff.config file, and edit line 17 from the top to point to a preferred path within your project directory or home directory, e.g., edit line 17 data.dir = ./data/ to something like:data.dir =/nesi/project/<project_id>
Please note that you must have read and write permissions to this directory.
Run snpEff.jar using the -c flag to point to your new config file, e.g., -c path/to/snpEff/my_snpEff.config For example:
```
java -jar $EBROOTSNPEFF/snpEff.jar -c /nesi/project/<project_id>/my_snpEff.config
```

Example Script¶

You will need to set up your configuration file before you run snpEff.

#!/bin/bash -e

#SBATCH --account        nesi12345
#SBATCH --job-name       my_snp_EFF_job
#SBATCH --time           20:00
#SBATCH --memory         4G
#SBATCH --output         %x_%j.out   # Name output file according to job name with Job ID

# purge all other modules that have already been loaded
module purge

# load specific snpEff version
module load snpEff/5.0-Java-11.0.4

# bring up help menu
java -jar $EBROOTSNPEFF/snpEff.jar -h

# run snpEff
java -jar $EBROOTSNPEFF/snpEff.jar -c /nesi/project/<project_id>/my_snpEff.config <other flags>