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 https://t.co/hlsTbCUIdb #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. https://t.co/12ixNersK4

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 https://t.co/hlsTbCUIdb #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.

Additional functional data from Multiplexed Assays of Variant Effect (MAVEs) are now displayed on functional tabs. Previously only published datasets were displayed, now datasets with a preprint are available @varianteffects

DECIPHER version 11.33 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

DECIPHER and @clinvar variants with a predicted molecular consequence of splice_donor_region_variant and splice_polypyrimidine_tract_variant are now displayed on the protein browser. These are displayed as pink triangles.

DECIPHER version 11.32 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

Ear disorders curated by Gene2Phenotype (G2P) are now displayed across the website. This includes curations for 87 genes and 97 Locus-Genotype-Mechanism-Disease-Evidence (LGMDE) threads

Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed on the protein browser. Data is available for ~4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.

Human Developmental Cell Atlas (HDCA) expression data is now displayed. Expression is displayed in 12 sections of a 6-7 post-conception week human embryo, alongside a sagittal view which displays the region of the embryo represented by each section @HaniffaLab @Muzz_Haniffa