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 readingAuthor: Aleena Mushtaq
Cool stuff Ensembl VEP can do: reporting functional assay results from MaveDB
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.
Continue readingEnsembl 114 has been released!
We are pleased to announce the release of Ensembl 114, and the corresponding release of Ensembl Genomes 61. This release brings an updated MANE set (v1.4) for the human GRCh38 assembly. We have updated existing data sets and added lots of exciting new genomes across the different Ensembl sites including rodents, livestock, plant, microbial and metazoa species. Variation data has been updated to EVA release 6 and is available for 39 species.
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 readingWhat’s coming in Ensembl release 114 / Ensembl Genomes 61?
Ensembl 114 and Ensembl Genomes 61 are expected in March 2025. Check out what we’re up to, although we can’t guarantee everything listed here will make it into the final release.
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 readingEnsembl 112 has been released.
We are pleased to announce the release of Ensembl 112, and the corresponding release of Ensembl Genomes 59. We have some exciting new fish species, many more drosophila species and some incredible VEP updates.
Continue readingFree Ensembl Browser and REST API virtual workshops in May
Sign up for our virtual series covering the Ensembl genome browser and accessing Ensembl data via its REST API. Both workshops will be held from Tuesday to Thursday, with the browser course running from 7th to 9th May and REST API from 14th to 16th May 2024 (14:00-17:00 BST). Read on for more information and how to register.
Continue readingWhat’s coming in Ensembl release 112 / Ensembl Genomes 59?
Ensembl 112 and Ensembl Genomes 59 are expected in April 2024. Check out what we’re up to, although we can’t guarantee everything listed here will make it into the final release.
Continue readingDowntime of Ensembl search
We are experiencing issues with the Ensembl search system due to unforeseen errors. The search function is currently unavailable and this may affect other functions such as the loading of variants on genomic sequences. To search for entries in Ensembl, you can do one of the following:
- Use the EMBL-EBI website: go to https://www.ebi.ac.uk/ebisearch and enter your search terms into the text box. E.g. if you want to search for human BRCA2 in Ensembl, enter
Ensembl human BRCA2into the search text box. - Use Google: to search for entries in Ensembl via Google, go to www.google.com and enter
site:https://www.ensembl.org [search terms]. E.g. if you want to search for human BRCA2, entersite:https://www.ensembl.org human BRCA2into Google.
We are working to fix this issue as quickly as possible, although a timeline is still unclear for the work to be completed. Services will be resumed as soon as the issue has been resolved. If you have any questions, please contact us on the Ensembl Helpdesk.