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 readingTag: variation
Cool 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.
Continue readingCool stuff Ensembl VEP can do – enhanced Structural Variant annotation
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 readingGetting to know us: Nakib from Ensembl Variation
Meet Syed Nakib Hossain, who joined the Ensembl Variation team in 2021. Read on to learn more about Nakib’s role in the team, what he is currently working on and what he enjoys about working at EMBL-EBI.
Continue readingPolyPhen-2 and SIFT scores are changing in release 109
We are updating SIFT and PolyPhen-2 predictions of missense variant deleteriousness in the Ensembl browser and Ensembl VEP with the new release 109. We have recalculated all scores using newer software versions, updating PolyPhen-2 from 2.2.2 to 2.2.3 and SIFT from version 5.2.2 to 6.2.1. When we update software and reference data versions, we expect to see changes in some predictions. This is a guide as to what you can expect.
Continue readingGetting to know us: Nuno from Ensembl Variation
We are reviving our Getting to know us blog series! First up is Nuno Agostinho, who joined the Variation team at the end of 2021. Here, we’ll get to know Nuno, what his role is, and how he became part of the Ensembl project.
Continue readingUpdate to the Ensembl COVID-19 resource
The latest release of Ensembl’s covid-19 site includes updated variation datasets plus new alignments and gene trees with around 60 other viral genomes.
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