Variant Effect Predictor (VEP)
Variant Effect Predictor (VEP) annotates and prioritizes genomic variants across coding and non-coding regions to enable interpretation across diverse genomes including vertebrates, plants, fungi, protists, metazoa, and bacteria.
Key Features:
- Variant annotation: Performs annotation of genomic variants using an extensive collection of genomic annotations.
- Variant prioritization: Prioritizes variants to aid identification of biologically relevant changes.
- Multi-kingdom genome support: Supports genomes of vertebrates, plants, fungi, protists, metazoa, and bacteria.
- Coding and non-coding analysis: Annotates and interprets variants in both coding and non-coding regions.
- Extensive genomic annotations: Leverages a broad set of genomic annotations to enhance interpretation accuracy.
- Configurable and extensible analyses: Provides configurable options to extend and customize analyses.
Scientific Applications:
- Basic research variant interpretation: Provides annotations and prioritization to support variant interpretation in basic research.
- Clinical variant interpretation: Annotates potential impacts of genomic variants to support clinical prioritization and interpretation.
- Cross-taxa genomic studies: Enables analysis and interpretation of variants across diverse genomes for comparative and multi-species studies.
Methodology:
Annotates and prioritizes variants using genomic annotations with configurable options to extend analyses across coding and non-coding regions and multiple genomes.
Topics
Collections
Details
- License:
- Apache-2.0
- Maturity:
- Mature
- Cost:
- Free of charge
- Tool Type:
- api, command-line tool, web application
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- Perl
- Added:
- 1/13/2017
- Last Updated:
- 11/25/2024
Operations
Data Inputs & Outputs
Genetic variation analysis
Publications
McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GRS, Thormann A, Flicek P, Cunningham F. The Ensembl Variant Effect Predictor. Genome Biology. 2016;17(1). doi:10.1186/s13059-016-0974-4. PMID:27268795. PMCID:PMC4893825.
PMID: 27268795
PMCID: PMC4893825
Funding: - Wellcome Trust (GB): WT095908 and WT098051
- Seventh Framework Programme (BE): 200754 (GEN2PHEN), 222664 (Quantomics)
- European Union’s Horizon 2020 research and innovation programme: 634143 (MedBioinformatics)