- Genetic variant annotation and effect prediction toolbox. It annotates and predicts the effects of variants on genes (such as amino acid changes).
- Supports over 8,500 genomes.
- Cancer variants analysis
- GATK compatibile (-o gatk)
- HGSV notations support (clinical)
- SnpSift helps filtering and manipulating genomic annotated files (VCF). Once you annotated your files using SnpEff, you can use SnpSift to help you filter large genomic datasets in order to find the most significant variants
- HPC_SNPEFF_DIR - main installation directory
- HPC_SNPEFF_BIN - directory with executable scripts
- HPC_SNPEFF_CONF - directory with the default configuration file.
In SnpEff-4.x series the upstream project provides a shell script
'snpEff', which can be used to run the program without calling java directly.
For snpeff/3.3h we provided a 'snpeff' wrapper that made running snpeff easier. For example,
java -Xmx2g -jar $HPC_SNPEFF_DIR/jar/snpEff.jar download -c $HPC_SNPEFF_CONF/snpEff.config -v athalianaTair10
could be run simply as
snpeff download -v athalianaTair10
To override the default 2g java memory setting use the following command on the command-line or in a job script:
Note: we provide a full mirror of snpeff/4.2 reference databases released by the upstream project, so please do not request addition of a new reference database unless you need a custom database built from your data. Please provide a fasta file and an annotation file for building the custom database.
See the installed database lists for
If you publish research that uses snpeff you have to cite it as follows:
"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.", Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. Fly (Austin). 2012 Apr-Jun;6(2):80-92. PMID: 22728672 [PubMed - in process]
"Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift", Cingolani, P., et. al., Frontiers in Genetics, 3, 2012.