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 readingTag: variation
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 readingEnsembl 113 has been released!
We are pleased to announce the release of Ensembl 113, and the corresponding release of Ensembl Genomes 60. This release brings major gene and regulatory feature annotation updates in Homo sapiens (Human) and Mus musculus (Mouse). We have updated existing genomes and added additional genomes across the different Ensembl sites, including livestock breeds in Ensembl, three new species in Ensembl Plants and 26 new species in Ensembl Metazoa. Can’t find the species you are looking for? Don’t forget that new and exciting genome assemblies and annotations are continuously added to Ensembl Rapid 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 readingIntegration of AlphaMissense scores into Ensembl
We’re excited to announce the integration of AlphaMissense pathogenicity scores into Ensembl! The display of AlphaMissense data in Ensembl and other EMBL-EBI resources aims to empower scientists to gain new insights, expand the exploration of genetic variation and the tolerance to change of different regions in proteins.
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 readingEnsembl 111 has been released!
We are pleased to announce the release of Ensembl 111, and the corresponding release of Ensembl Genomes 58 featuring a range of new Ensembl VEP plugins and tonnes of new and updated agricultural, fish, plant and metazoa species!
Genome assemblies and annotation for many new species are also being continuously added to the Ensembl Rapid Release genome browser.
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