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.

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

RT @eventsWCS: Gain an understanding of how to maximise clinical data insights to improve patient care! #CCG2025. Register for an in-person….

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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 #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.

RT @embl: (2/2) On Rare Disease Day, we’re highlighting EMBL's molecular biology research & services in this area. Check out our collectio….

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

RT @eventsWCS: Registration is now open for our Curating the Clinical Genome Conference! #CCG2025. 🗓️Dates: 11 - 13 June 2025. If you are i….

DECIPHER users can now search for patient matches in @BostonChildrens seqr in addition to @PhenomeCentral, @broadinstitute seqr, @GeneMatcher, @ConnectRD and @MyGene2 using @MatchMExchange

A @gnomad_project Short Tandem Repeat track is now available on the genome browser which displays information about 60 disease associated repeat loci. The associated diseases are displayed along with the normal and pathogenic repeat lengths, and links to STRipy

Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown. @jmarshlab @BdonyiMihly

The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders @KathrynMcGurk @drjamesware and @cvgenomics | #cardiogen