The DECIPHER Project

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 as pink triangles.

Registration is now open for our Curating the Clinical Genome Conference! #CCG2025 🗓️Dates: 11 - 13 June 2025 If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬 📎Find out more: bit.ly/4fb77QI

Did you attend @iscb's ISMB/ECCB 2025 in Liverpool? Colleagues from across @emblebi (including reps from #Ensembl, @deciphergenomic, @EBItraining, @PDBeurope and @ExpressionAtlas) surely did! What was your highlight of the conference? 🧬

18 additional @gnomad_project short tandem repeats are now displayed; 9 recently discovered and 9 which are not currently linked to rare diseases but have historically appeared in various catalogs as suspected disease-causing loci.

Additional functional data from Multiplexed Assays of Variant Effect (MAVEs) are now displayed on functional tabs. Previously only published datasets were displayed, now datasets with a preprint are available @varianteffects

DECIPHER version 11.33 has been released. See the new features at deciphergenomics.org #variantinterpretation

DECIPHER version 11.32 has been released. See the new features at deciphergenomics.org #variantinterpretation

Ear disorders curated by Gene2Phenotype (G2P) are now displayed across the website. This includes curations for 87 genes and 97 Locus-Genotype-Mechanism-Disease-Evidence (LGMDE) threads

Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed on the protein browser. Data is available for ~4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.

Human Developmental Cell Atlas (HDCA) expression data is now displayed. Expression is displayed in 12 sections of a 6-7 post-conception week human embryo, alongside a sagittal view which displays the region of the embryo represented by each section @HaniffaLab @Muzz_Haniffa

DECIPHER version 11.31 has been released. See the new features at deciphergenomics.org #variantinterpretation

Gain an understanding of how to maximise clinical data insights to improve patient care! #CCG2025 Register for an in-person place to join leading #genomics and #biodata experts at Curating the Clinical Genome 2025. #ClinicalGenetics 📅Deadline: 13 May 📎 bit.ly/4fb77QI

Can you spare 5 minutes to help shape the future development of DECIPHER? Your views are extremely important to us. Please access our user survey here: docs.google.com/forms/d/e/1FAI…

The pathogenicity of DECIPHER and #ClinVar variants are now displayed in bold on variant and protein variant pages to make it clearer if the variant has been classified as being pathogenic or benign

The display of Gene2Phenotype #G2P data has been updated to reflect the new data structure of curated Locus-Genotype-Mechanism-Disease-Evidence threads which allow for precise definition of the clinical phenotype and molecular basis of a given condition @emblebi

DECIPHER version 11.30 has been released. See the new features at deciphergenomics.org #variantinterpretation

DECIPHER is proud to have made an impact on rare disease research over the last 20 years; more than 4000 publications have cited the platform.

(2/2) On Rare Disease Day, we’re highlighting EMBL's molecular biology research & services in this area. Check out our collection of stories: embl.org/news/tag/rare-…

Congratulations to our G2P colleagues on the new website and updated disease-models, which now include more detailed disease mechanism information 🎉🎉🎉🎉