During the latest Ensembl VEP releases, we have been enhancing the options available to you when you annotate variants against your own reference data as ‘custom annotation’. Here we detail some of those improvements.
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Cool stuff the Ensembl VEP can do: easy installation and annotation using Docker and Singularity
Here we will highlight how to get the most out of containers, enabling you to quickly start running any version of Ensembl VEP on a computer with Docker/Singularity installed. We have improved the Ensembl VEP Docker build process and updated our instructions on how to use Docker and Singularity.
Continue readingCool stuff Ensembl VEP can do – enhanced Structural Variant annotation
In Ensembl release 110, we have extended the analysis options available for structural variants (SV) in Ensembl VEP including more detailed molecular consequence predictions, more efficient integration of information from reference SV sets, support for breakend variant annotation and the integration of CADD-SV scores.
Continue readingCool stuff Ensembl VEP can do: Using Gene Ontology annotations to understand gene function
Ensembl VEP maps your variants to genes but what do those genes do?
The Gene Ontology (GO) annotates genes with molecular function, the cellular location in which the gene product functions and the biological process in which the gene product is involved. In addition to phenotype association information, which is only available for a few genes, we now show GO annotations to help guide variant prioritisation by providing an indication of the functionality a variant may affect.
Continue readingPolyPhen-2 and SIFT scores are changing in release 109
We are updating SIFT and PolyPhen-2 predictions of missense variant deleteriousness in the Ensembl browser and Ensembl VEP with the new release 109. We have recalculated all scores using newer software versions, updating PolyPhen-2 from 2.2.2 to 2.2.3 and SIFT from version 5.2.2 to 6.2.1. When we update software and reference data versions, we expect to see changes in some predictions. This is a guide as to what you can expect.
Continue readingCool stuff Ensembl VEP can do: display variants on AlphaFold-predicted 3D protein structures
The AlphaFold AI system developed by DeepMind predicts a protein’s 3D structure from its amino acid sequence. You can now view variant locations on AlphaFold predicted structures in the Ensembl VEP web tool.
Continue readingCool stuff Ensembl VEP can do – provide evidence of protein interaction impact
Ensembl VEP integrates information from many different resources to help you interpret the functional impact of your variants. It now reports when variants fall in sites with evidence of impact on protein interactions, as described in the IntAct database.
Continue readingCool stuff Ensembl VEP can do: run faster with Nextflow
Ensembl VEP is now wrapped in a Nextflow pipeline which means you can analyse large variant sets more quickly using simple parallelisation.
Continue readingCool stuff Ensembl VEP can do: flagging variants predicted to allow NMD escape
A new plugin was released in Ensembl VEP version 105 which reports when a variant introducing a premature stop codon may allow the transcript to escape nonsense-mediated decay (NMD).
Continue readingUpdated G2P terms supported in Ensembl VEP
Recent changes to the terms used in the G2P database are aligned with global standards, but are not compatible with old versions of the VEP G2P plugin. We’ve updated the latest version of the VEP G2P plugin (Ensembl 105) to be compatible with both the old and new formats.
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