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)

Documentation

Links