@deciphergenomic profile picture
The DECIPHER Project @deciphergenomic
Joined December 2015
  • Tweets 479
  • Following 103
  • Followers 2,177
269 Photos and videos
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
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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
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DECIPHER version 11.39 has been released. See the new features at deciphergenomics.org #variantinterpretation
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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…
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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
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DECIPHER version 11.38 has been released. See the new features at deciphergenomics.org #variantinterpretation
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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
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Links to IEMbase and Treatable ID have moved – they can now be found on the new Therapies tab
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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.
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Links to @Unique_charity single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone
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DECIPHER version 11.37 has been released. See the new features at deciphergenomics.org #variantinterpretation

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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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On the protein browser mtDNA @gnomad_project missense and LoF tracks are available which display the location of gnomAD variants with these predicted molecular consequences.
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On the genome browser, @gnomad_project 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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On annotation tabs, @gnomad_project 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 #mitochondria
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DECIPHER version 11.35 has been released. See the new features at deciphergenomics.org #variantinterpretation
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The DECIPHER Project retweeted
EMBL-EBI@emblebi
22 Oct 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 @deciphergenomic. ebi.ac.uk/about/news/technol…
DECIPHER database logo

ALT DECIPHER database logo
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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 @NIH
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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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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 @ClinGenResource @TheACMG
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