Genome biology · 2016 · 8.7K citations · 66 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsTranscriptomicsGenomic Data IntegrationGenomic PredictionVariant AnalysisVariant ClassificationVariant DetectionVariant InterpretationComputational Variant Effect PredictionIn Silico Variant PrioritizationSequence Variant AnnotationSequence Variant CurationTranscript-based Variant AnalysisVariant AnnotationVariant Data IntegrationVariant Effect Prediction
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.
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An integrated encyclopedia of DNA elements in the human genome
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text
The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text
An integrated map of genetic variation from 1,092 human genomes