The DECIPHER Project

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/1FAI… This is a new survey so don’t hesitate to answer it even if you had completed it last year.

@CptTanglebeard Hi @CptTanglebeard the website is back. Apologies for any inconvenience caused

@deciphergenomic Hello. Love your website but it appears to be down. Do you have any idea how long it will be down for?

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 @ClinGenResource

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 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

Regional Nonsense Constraint display in DECIPHER, providing insights into transcript regions that don't tolerate stop codons - collaboration with Alex Blakes, Nicky Whiffin, Siddharth Banka, Jamie Ellingford, Colin Johnson, @GenomicsEngland @mft_iMRare @OfficialUoM @wellcometrust

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

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 data and integrated in collaboration with Alex Blakes #RareDisease #VariantClassification

DECIPHER version 11.40 has been released. See the new features at 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, @CanGeneCanVar 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 #TreatmentForAll

DECIPHER version 11.39 has been released. See the new features at 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: ebi.ac.uk/about/our-impa…

N=1 treatment informationis 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 and provided by N1C Gene Registry. #TreatmentForAll

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

This #RareDiseaseDay we’re highlighting how open 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 rare conditions @Unique_charity @GeneticAll_UK

@CNwajichukwu We develop new features in collaboration with users to ensure the interfaces are as intuitive as possible. If any users have feedback, we would love to hear from them.

@deciphergenomic Exciting release! 👏 Curious if you’re tracking where users stumble with the new features or how they interact with updates. Even small friction points in first sessions can affect adoption and feedback significantly.

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

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, N1C Gene Registry are now displayed in DECIPHER on a new Therapies tab - available from gene pages and patient records.