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deciphergenomics.bsky.social
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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/1F...

submitted 7 days ago • 0 comments

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/1F...

submitted 7 days ago • 0 comments

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

submitted 10 days ago • 0 comments

The display of @gene2phenotype.bsky.social (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 @ebi.embl.org

submitted 10 days ago • 0 comments

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

submitted 10 days ago • 0 comments

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.

submitted 31 days ago • 0 comments

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

submitted 32 days ago • 0 comments

🎉 Registration is now open for the Mutational Scanning Symposium "Mapping and Modelling Variant Effects at Scale" #VariantEffect25 @ibecbarcelona.eu ℹ️ events.ibecbarcelona.eu/mutational-s...

submitted 64 days ago • 0 comments

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! 🧬 🗣️ Keynote: @heidirehm.bsky.social 📎Info: bit.ly/4gt4EB6

submitted 82 days ago • 0 comments

DECIPHER users can now search for patient matches in Boston Children’s Hospital seqr in addition to PhenomeCentral, Broad seqr, GeneMatcher, RD-connect and MyGene2 using Matchmaker Exchange

submitted 82 days ago • 0 comments

A @gnomad-project.bsky.social 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

submitted 82 days ago • 0 comments

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.bsky.social @mbadonyi.bsky.social

submitted 82 days ago • 0 comments

The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders @jamesware.bsky.social @kathrynmcgurk.bsky.social

submitted 82 days ago • 0 comments

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 @jamesware.bsky.social @kathrynmcgurk.bsky.social

submitted 82 days ago • 0 comments

Estimated population penetrance for variants associated with cardiomyopathies are now displayed alongside cardiac allele frequencies. This information is useful when considering secondary findings @jamesware.bsky.social @kathrynmcgurk.bsky.social

submitted 82 days ago • 0 comments

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

submitted 82 days ago • 0 comments

DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

submitted 82 days ago • 0 comments

Happy 20th Birthday DECIPHER The DECIPHER team celebrating the platform facilitating variant classification, patient diagnosis and empowering rare disease research for 20 years. @malloryfreeberg.bsky.social @mehurles.bsky.social @helenvfirth.bsky.social

submitted 126 days ago • 3 comments