In Ensembl release 116 (Ensembl Genomes 63), two large protein clusters in Plants have incomplete or missing homology data due to production constraints. To address this, we set about making these clusters accessible via the gene families view. Please read on if you’d like to know more about these clusters, both associated with the Panther subfamily ‘PTHR11439_SF127’.

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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.

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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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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.

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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.

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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.

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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.

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