DECIPHER v11.32 released
DECIPHER v11.32 introduces new improvements including integration of gnomAD v4.1 sequence variant data across the website and refined visualisation of splice region variants
gnomAD v4.1 sequence variant data
gnomAD v4.1 sequence variant data is now displayed across the website. This includes on the genome browser, protein browser and annotation tabs. The gnomAD data has been re-annotated using the Ensembl Variant Effect Predictor to ensure that the displayed molecular consequences reflect the gene build used on the DECIPHER website (currently Ensembl 113) and the latest predictive scores (e.g. REVEL, CADD) are shown. The dataset will be re-annotated in the future to ensure the annotations remain current.
Improved visualisation of splice region variants
DECIPHER and ClinVar variants with a predicted molecular consequence of splice_donor_region_variant and splice_polypyrimidine_tract_variant are now displayed on the protein browser. These are displayed in the same way as splice_region_variant, as pink triangles.
