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 readingTag: variant effect predictor
Cool 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.
Continue readingCool stuff Ensembl VEP can do: protein annotations from neXtProt
Together with the neXtProt team, we’ve created a plugin for the command-line VEP tool to retrieve and report information about the protein location of missense and stop gained variants.
Continue readingUsing Ensembl VEP with Windows 10
Ensembl VEP has been developed for use on Linux systems and we recommend installing on a Linux system for the optimal installation and usage experience. However, we occasionally receive queries about using VEP in the Windows environment – this guide will help you get going if you are using Windows 10.
Continue readingCool stuff the VEP can do: installation
If you don’t want to analyse your variants on external servers or have more than 1000 or so to annotate, you probably want to use the VEP script. Setting it up might not always be straightforward as there are dependencies you need, but the installation script takes away a lot of the trouble.
Cool stuff the VEP can do: custom annotation
Trixie the Triceratops
Ensembl produce high quality gene annotation for a number of species, but getting it to the high quality we expect takes time. This means there are many species and strains where we don’t have annotation yet. If you’re working with a species without Ensembl annotation (like Trixie the Triceratops here) or even a specific strain that we don’t have, you can still make use of VEP for predicting the effect of variants on genes and transcripts, using your own annotation. All you need is a GFF or GTF of the transcripts, and a FASTA file of the genome.