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Estimated population penetrance for variants associated with cardiomyopathies are now displayed alongside cardiac allele frequencies. This information is useful when considering secondary findings. Kathryn McGurk James Ware and @cvgenomics | #cardiogen

Cardiac case/control cohort data, which demonstrates the confidence of cardiac gene-phenotype relationships associated with specific variant classes, has been updated; more variant classes e.g. canonical splice site variants Kathryn McGurk James Ware and @cvgenomics #cardiogen

The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders Kathryn McGurk James Ware and @cvgenomics | #cardiogen

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. Joe Marsh Mihaly Badonyi

A Genome Aggregation Database 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

DECIPHER users can now search for patient matches in Boston Children's seqr in addition to PhenomeCentral, Broad Institute seqr, GeneMatcher, RD-Connect and MyGene2 using MatchmakerExchange

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

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

(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-…

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.

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

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 EMBL-EBI

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

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…

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

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

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 Haniffa Lab Muzlifah Haniffa

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.

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