Following the recent launch of Google DeepMind’s AlphaGenome Atlas, the Ensembl Variant Effect Predictor (Ensembl VEP) has now integrated AlphaGenome Variant Impact (AVI) scores. This integration enables researchers to easily access AI-generated scores which estimate how likely genetic variants across the whole genome are to be deleterious. These are available to use now for human reference in the new Ensembl and the Ensembl 116 archive.
Continue readingTag: VEP
New pathogenicity predictions available for human variants
Ensembl release 116 brings updated predictions to help interpret the potential impact of human genetic variants. By introducing two machine learning models and improving existing scores, this update makes it easier to explore and understand variant effects across the website.
Continue readingCool 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: 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 115 has been released!
We are pleased to announce the release of Ensembl 115, and the corresponding release of Ensembl Genomes 62. In this release – around 121,000 new protein-coding transcripts have been added to the GRCh38 human reference gene set. Two new breeds of cattle are now available (UOA_Tuli_1 and UOA_Wagyu_1) and the sheep reference has been updated to ARS-UI_Ramb_v3.0. Seven new plant species have been added: four oats, two garden peas, and one lablab bean. We have also added two new export modes for Newick trees which help to avoid stable ID clashes.
Continue readingWhat’s coming in Ensembl release 115 / Ensembl Genomes 62?
Ensembl 115 and Ensembl Genomes 62 are expected in September 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 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 readingWhat’s coming in Ensembl release 113 / Ensembl Genomes 60?
We expect to release Ensembl 113 and Ensembl Genomes 60 in September October 2024. Below is a list of updates that we are hoping to include in the upcoming release. However, please note that we cannot guarantee everything listed here will make it into the final release.