Proportion expression across transcripts (pext) scores are now displayed in a track in the genome browser. These scores summarise the expression level of exonic regions across different tissues - based on @GTExPortal data & released as part of @gnomad_project v4

DECIPHER version 11.41 has been released. See the new features at deciphergenomics.org #variantinterpretation

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…

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 @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-impact/2…

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

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