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.

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.

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.

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

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

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

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

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

DECIPHER version 11.40 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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

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

DECIPHER version 11.39 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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...

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

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

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

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

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.

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

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

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

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...

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...

ebi.ac.uk

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.

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.

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

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

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... 🧬💻

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.

ebi.ac.uk

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.

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!

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.