iiinova — where your digital self keeps evolving

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/09/2026

Are you a skilled and highly motivated Bioinformatics Developer looking for a new opportunity? Join the DECIPHER team - gain knowledge of clinical genomics and improved web development skills while creating tools to facilitate genomic medicine. embl.wd103.myworkdayjobs.com/EMBL/job/Hin...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 14/07/2026

The 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 14/07/2026

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026

ClinVar 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026

NMD 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026

The 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026

Display 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026

Regional 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026

Regional 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/06/2026

Links 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/06/2026

N=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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/05/2026

We’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...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 26/03/2026

N=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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 26/03/2026

DECIPHER version 11.38 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 27/02/2026

This #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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026

Links to IEMbase and Treatable ID have moved – they can now be found on the new Therapies tab

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026

Approved 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026

Links to @uniquecharity.bsky.social single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28/01/2026

DECIPHER version 11.37 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 03/12/2025

I'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

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G2P @gene2phenotype.bsky.social · 27/11/2025

Compiling evidence of gene-disease associations from the scientific literature for rare disease diagnosis and research is essential but time consuming. Publications identified using a new machine learning approach can now be searched and browsed in G2P. www.ebi.ac.uk/about/news/u...

ebi.ac.uk

Machine learning method identifies evidence for developmental disorders in the G2P database

An extensive collection of peer-reviewed publications describing developmental disorders has been identified and integrated into G2P to help clinicians and researchers better understand the genetic ba...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025

On 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025

On 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025

On 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 31/10/2025

DECIPHER version 11.35 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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EMBL-EBI @ebi.embl.org · 22/10/2025

Growth charts guide child healthcare, but standard charts often don’t reflect the growth patterns of children with rare conditions. A new method, LMSz, creates condition-specific growth charts and is being integrated in @deciphergenomics.bsky.social www.ebi.ac.uk/about/news/t... 🧬💻

ebi.ac.uk

New method to bring growth charts to children with rare genetic conditions through DECIPHER

A new method for building growth charts for children with rare diseases is being integrated into DECIPHER to help clinicians and families understand child development.

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Caroline Wright @carolinefwright.bsky.social · 11/09/2025

Super-simple application of pathogenicity evidence during variant assessment in @deciphergenomics.bsky.social - even for complicated PVS1 in multiexon deletions where the frame is preserved - confirming a likely diagnosis.

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Caroline Wright @carolinefwright.bsky.social · 10/09/2025

Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025

The 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025

Descriptive 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025

ClinGen 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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025

Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants @ebi.embl.org

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025

Mitochondrial 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/09/2025

DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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G2P @gene2phenotype.bsky.social · 17/07/2025

FASTKD5-related Leigh syndrome added to DDG2P. Biallelic FASTKD5 LoF variants cause an early- to late-onset Leigh syndrome associated with complex IV deficiency. www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 11/07/2025

'UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment' added to DDG2P. Biallelic UGGT1 LoF variants cause a disorder characterised by developmental delay, intellectual disability, seizures, craniofacial dysmorphism, and microcephaly. See www.ebi.ac.uk/gene2phenoty...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2025

18 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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2025

‪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 @varianteffect.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2025

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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/06/2025

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.

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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

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 18/06/2025

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

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James Fasham @jamesfasham.bsky.social · 25/05/2025

Thanks for capturing this and thanks to the workshop organiserat #ESHG2025☺️ DECIPHER is an amazing example of how keeping genomic data patient centred makes it better! That is all 🎤 @deciphergenomics.bsky.social (COI see my bio)

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025

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 @gene2phenotype.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025

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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025

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 @mhaniffa.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 07/05/2025

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

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