The quickest and most flexible way to run Ensembl VEP on large scale variant sets is to install and run it locally. Depending on the use case, the underlying architecture, and the available permissions, installing VEP prerequisites is prone to complications. To aid with this, we have made the VEP available with containers.

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To better understand how your variants might be linked to disease, you can add information from DisGeNET to your VEP analysis. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature, to provide disease associations with genes and variants.

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When you find a variant you are interested in, you will want to thoroughly investigate all current knowledge about it. For each Ensembl release we update our variation databases with the latest public information from a wide range of resources and make summary information available in VEP. We now make it easier to link to fuller details in these resources by providing lists of names used for each variant in each.

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With absolutely tons of publication data out there, finding relevant information about your variants and genes of interest can be a struggle. We’ve been working with Genomenon to integrate Mastermind, the Genomic Search Engine, into VEP results, bringing you publication data about genes, variants, phenotypes, diseases and therapy evidence.

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The web VEP tool gives you a lot of useful information about your variants, but you may want more details, for example about the genes your variants overlap: maybe you want to fetch their sequences, homologues or protein domains. With a single click, you can go straight to BioMart, using your list of genes or known variants as your filter.

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Allele frequency data is important for variant prioritisation – it helps to identify variants that are less likely to be causing a phenotype or disease. With the Ensembl VEP, you can get allele frequencies for variants that are identical with the variants you analysed and you can use allele frequencies to filter the results of your analysis.

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