deciphergenomics.bsky.social @deciphergenomics.bsky.social · 14/07/2026The annual DECIPHER user survey is now available ! Please, help us to improve DECIPHER by taking 5 minutes to answer. docs.google.com/forms/d/e/1F... This is a new survey so don’t hesitate to answer it even if you had completed it last year. 033
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026ClinVar aggregate classifications are now used in the display of #ClinVar variants across the site. This includes the colouring of variants (which represents annotated pathogenicity) on the protein browser and filters on the protein and genome browsers. 010
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026NMD predictions have been updated. The first 200bp of coding nucleotides on the protein browser are now highlighted as predicted to escape the NMD - 100-200bp is shaded in light grey to reflect the evidence of gradual decrease in NMD inhibition in this region #VariantClassification 021
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026The availability of episignatures from #EpiSign are now displayed on gene pages and therapy tabs. Episignatures provide functional evidence to support variant interpretation and disease classification #RareDisease #VariantClassification 020
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026Display of Regional Nonsense Constraint in DECIPHER - insights into transcript regions that do not tolerate stop codons - collaboration with @alexblakes.bsky.social @nickywhiffin.bsky.social l @genomicsengland.bsky.social @mft-imrare.bsky.social l @manchester.ac.uk @wellcometrust.bsky.social 010
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026Regional Nonsense Constraint data, evidence of intolerance to premature stop codons in the context of nonsense-mediated decay, is displayed as a track in the genome browser #RareDisease #VariantClassification @gnomad-project.bsky.social 020
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026Regional Nonsense Constraint can be viewed on the protein browser, highlighting regions of transcripts that do not tolerant stop_gained variants – based on @gnomad-project.bsky.social and integrated in collaboration with @alexblakes.bsky.social #VariantClassification 010
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/06/2026Links to UK Cancer Genetics Group management guidelines are now available for 35 cancer susceptibility genes. These are one-page gene-specific management guidelines created by UKCGG, CanGene-CanVar working groups and expert colleagues #cancersusceptibility 030
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/06/2026N=1 assessed variant information is now displayed on N=1 tabs. These are variants which have been assessed for their eligibility for a therapeutic intervention by the @n1collaborative.bsky.social #TreatmentForAll 020
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/05/2026We’re proud to see DECIPHER highlighted in @emblebi new economic impact report. As part of this ecosystem, DECIPHER helps clinicians & researchers interpret and share phenotype-linked genomic variants Read the report: www.ebi.ac.uk/about/our-im... 000
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 26/03/2026N=1 treatment information is now displayed on a new N=1 tab. These are treatments for highly personalized, single-patient clinical trials or custom-designed therapies, curated by the @n1collaborative.bsky.social and provided by N1C Gene Registry #TreatmentForAll 021
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 27/02/2026This #RareDiseaseDay we’re highlighting how data sharing supports diagnosis, research & families living with rare conditions. Watch to find out how access to rare disease data can help families better understand their children’s conditions. @uniquecharity.bsky.social @geneticallianceuk.bsky.social 065
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026Links to IEMbase and Treatable ID have moved – they can now be found on the new Therapies tab 021
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026Approved genetic drugs/therapies, from the @n1collaborative.bsky.social, N1C Gene Registry are now displayed in DECIPHER on a new Therapies tab - available from gene pages and patient records. 021
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026Links to @uniquecharity.bsky.social single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone 021
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 03/12/2025I'm excited to be speaking at #FOGLondon this January. Have a question you'd like me to answer during my session? Drop it in the comments or message me, I'd love to hear your thoughts. Further information: hubs.la/Q03JMvwd0 #FOGLondon #genomics #biodata 031
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025On the protein browser mtDNA @gnomad-project.bsky.social missense and LoF tracks are available which display the location of gnomAD variants with these predicted molecular consequences. 030
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025On the genome browser, @gnomad-project.bsky.social mitochondrial variants and coverage tracks are now available. Variants can be coloured by predicted consequence, homoplasmic allele frequency or heteroplasmic allele frequency. 020
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025On annotation tabs, @gnomad-project.bsky.social mitochondrial DNA variant homoplasmic and heteroplasmic counts and allele frequencies for each haplogroup are displayed alongside lineage information from MITOMAP. Heteroplasmy distribution and coverage metrics are also available 040
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025The bespoke PubMed search on gene pages is now displayed in bold. This link opens a browser tab with a PubMed search displaying publications that include the gene of interest. 030
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025Descriptive names for gene and protein predictive scores are now displayed on gene pages to assist in demystifying these scores and making them easier to understand. 010
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025ClinGen Variant Curation Expert Panel Recommendations are now displayed more clearly on gene pages and in the pathogenicity evidence interface, especially for genes with recommendations for more than one disease @theacmg.bsky.social 021
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants @ebi.embl.org 030
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in @gnomad-project.bsky.social l compared to a mitochondrial genome constraint model under neutrality selection. 010
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/202518 additional @gnomad-project.bsky.social 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. 000
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2025Additional 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 @varianteffect.bsky.social 020
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/06/2025DECIPHER 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. 042
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/06/2025@gnomad-project.bsky.social v4.1 sequence variant data is now displayed; re-annotated using @ensembl.bsky.social Variant Effect Predictor so molecular consequences reflect the gene build on the DECIPHER website. Data will be re-annotated in the future to ensure the annotations remain current 083
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025Ear 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 @gene2phenotype.bsky.social 051
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025Cancer 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. 062
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025Human 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 @mhaniffa.bsky.social 0177
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 24/03/2025Can 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... 054
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 21/03/2025The 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 061
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 21/03/2025The 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 0104
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/02/2025DECIPHER is proud to have made an impact on rare disease research over the last 20 years; more than 4000 publications have cited the platform. 072
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025DECIPHER 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 041
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025A @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 051
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025Protein 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 065
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders @jamesware.bsky.social @kathrynmcgurk.bsky.social 062
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025Cardiac 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 041
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025Estimated 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 082
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 08/01/2025Cancer 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. 031
deciphergenomics.bsky.social @deciphergenomics.bsky.social · 26/11/2024Happy 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 3124
