A web and command-line tool to analyze and predict functional consequences of your variants, SNPs, indels, CNVs on genes, regulatory regions, transcripts, and protein sequences.
Biology, Genetics, Genotype and phenotype
McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F. "The Ensembl Variant Effect Predictor." Genome Biology Jun 6;17(1):122. (2016). https://doi.org/10.1186/s13059-016-0974-4
PMID: 27268795
PMCID: PMC4893825
McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F "Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor." Bioinformatics 2010; 26(16):2069-70 https://doi.org/10.1093/bioinformatics/btq330
PMID: 20562413
PMCID: PMC2916720
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