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 10th to 12th October and the REST API course from 17th to 19th July (09:00 – 12:00 BST). Read on for more information and how to register.

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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.

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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 11th to 13th July and the REST API course from 18th to 20th July (14:00 – 17:00 BST). Read on for more information and how to register.

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Ensembl VEP maps your variants to genes but what do those genes do?

The Gene Ontology (GO) annotates genes with molecular function, the cellular location in which the gene product functions and the biological process in which the gene product is involved. In addition to phenotype association information, which is only available for a few genes, we now show GO annotations to help guide variant prioritisation by providing an indication of the functionality a variant may affect.

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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.

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