SnpEff & SnpSift
Genomic variant annotations and functional effect prediction toolbox.
SnpEff
Genetic variant annotation and functional effect prediction toolbox. It annotates and predicts the effects of genetic variants on genes and proteins (such as amino acid changes).
Features:
- Supports over 38,000 genomes.
- Standard ANN annotation format
- Cancer variants analysis
- GATK compatible (
-o gatk) - HGVS notation
- Sequence Ontology standardized terms
SnpSift
SnpSift annotates genomic variants using databases, filters, and manipulates genomic annotated variants. 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 for your experiment.
Microsoft Genomics
All SnpEff & SnpSift genomic databases are kindly hosted by Microsoft Genomics and Azure
Version 5.1
Features:
- Removed Log4J vulnerability
- Significant improvements in NextProt annotations
- Added database backwards compatibility
Paper & Citing
If you are using SnpEff or SnpSift in an research or academic environment, please cite our papers.
Who uses SnpEff?
Users of SnpEff include most major research an academic institutions, as well as pharmaceutical companies and clinical sequencing projects.
Galaxy, GATK & GKNO
SnpEff is integrated with other tools commonly used in sequencing data analysis pipelines. Most notably Galaxy, GATK and GKNO projects support SnpEff.
In memory of Dr. Xiangyi Lu: Please donate
On October 22, 2017, Xiangyi Lu, a co-author on the SnpEff and SnpSift papers, died of ovarian cancer after a three year struggle. Douglas Ruden, Xiangyi's husband and senior author on the papers, has requested that a non-mandatory gift of at least $10 for using SnpEff or SnpSift be donated to WSU to honor Xiangyi Lu. All gifts will go to a newly named fund, the "Xiangyi Lu Graduate Student Fellowship in Bioinformatics Fund." with the goal of raising $1 million, in order to permanently endow one graduate student research position in bioinformatics every year.