The DECIPHER Project

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.

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

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

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.

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.

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

DECIPHER version 11.35 has been released. See the new features at 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 @deciphergenomic. ebi.ac.uk/about/news/tec…

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

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.

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

Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants #protein @emblebi

Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in @gnomad_project compared to a mitochondrial genome constraint model under neutrality selection @NicoleLake

DECIPHER version 11.34 has been released. See the new features at deciphergenomics.org #variantinterpretation

Did you attend @iscb's ISMB/ECCB 2025 in Liverpool? Colleagues from across @emblebi (including reps from #Ensembl, @deciphergenomic, @EBItraining, @PDBeurope and @ExpressionAtlas) surely did! What was your highlight of the conference? 🧬

18 additional @gnomad_project short tandem repeats are now displayed; 9 recently discovered and 9 which are not currently linked to rare diseases but have historically appeared in various catalogs as suspected disease-causing loci.