Ensembl VEP makes it easy to annotate your variants with the reference data essential to variant filtering and interpretation. This includes the results of multiplex assays of variant effect (MAVEs) which report on observed cellular phenotypes across nearly all possible variants in specific targeted regulatory or coding regions.
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Cool stuff Ensembl VEP can do: annotate structural variants with gnomAD allele frequencies and ClinVar clinical significance
To support the filtering and interpretation of structural variants (SVs), the Ensembl VEP web interface has been extended in release 115 to annotate them with allele frequencies from gnomAD and clinical significance from ClinVar.
Continue readingCool stuff Ensembl VEP can do: reduce the number of human transcripts you need to consider without missing results!
Ensembl VEP calculates the location and likely impact of variant alleles on genes, producing extensive annotations, but there are now a huge number of human transcripts to consider. The new GENCODE Primary transcript set streamlines the variant annotation process, saving time in both analysis and results filtering/ interpretation.
Continue readingCool stuff Ensembl VEP can do: supporting alternative human assemblies
The Ensembl VEP command-line tool can annotate and filter variants called against the latest human assemblies, including the telomere-to-telomere assembly of the CHM13 cell line (T2T-CHM13). In this blog post, we provide examples of how to run Ensembl VEP with these new assemblies and list the additional annotations supported via plugins.
Continue readingCool stuff the Ensembl VEP can do: new options for custom annotation
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.
Continue readingCool 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.
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