The Ensembl Variant Effect Predictor

Abstract

The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding regions. It provides access to an extensive collection of genomic annotation, with a variety of interfaces to suit different requirements, and simple options for configuring and extending analysis. It is open source, free to use, and supports full reproducibility of results. The Ensembl Variant Effect Predictor can simplify and accelerate variant interpretation in a wide range of study designs.

Keywords

EnsemblAnnotationPrioritizationComputational biologyBiologyCoding (social sciences)Human geneticsGenomicsComputer scienceBioinformaticsGeneticsGenomeStatisticsGeneMathematicsEngineering

MeSH Terms

Computational BiologyDatabasesNucleic AcidGenetic VariationGenomicsHumansInternetMolecular Sequence AnnotationSoftware

Affiliated Institutions

European Bioinformatics Institute GB

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Publication Info

Year: 2016
Type: article
Volume: 17
Issue: 1
Pages: 122-122
Citations: 8031
Access: Closed

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APA Style

                            
                                
                                    William McLaren, 
                                
                                    Laurent Gil, 
                                
                                    Sarah Hunt
                                
                                et al.
                            
                            (2016). 
                            The Ensembl Variant Effect Predictor. 
                            Genome biology
                            , 17
                            (1)
                            , 122-122.
                            https://doi.org/10.1186/s13059-016-0974-4
                        

Identifiers

DOI: 10.1186/s13059-016-0974-4
PMID: 27268795
PMCID: PMC4893825

Data Quality

Data completeness: 90%