The DECIPHER Project

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.41 has been released. See the new features at https://t.co/hlsTbCVg2J #variantinterpretation

[The DECIPHER Project @deciphergenomic]

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.
https://t.co/tgChXeDNh6

[The DECIPHER Project @deciphergenomic]

The annual DECIPHER user survey is now available ! Please, help us to improve DECIPHER by taking 5 minutes to answer. https://t.co/tNprGjANSO
This is a new survey so don’t hesitate to answer it even if you had completed it last year.

[The DECIPHER Project @deciphergenomic]

The annual DECIPHER user survey is now available ! Please, help us to improve DECIPHER by taking 5 minutes to answer. https://t.co/tNprGjANSO
This is a new survey so don’t hesitate to answer it even if you had completed it last year.

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

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 DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.40 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.39 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

[The DECIPHER Project @deciphergenomic]

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: https://t.co/I2Z1cdzp9F

[The DECIPHER Project @deciphergenomic]

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

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.38 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

[The DECIPHER Project @deciphergenomic]

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