@deciphergenomics.bsky.social
Links to IEMbase and Treatable ID have moved – they can now be found on the new Therapies tab
January 28, 2026 at 12:49 PM
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.bsky.social, N1C Gene Registry are now displayed in DECIPHER on a new Therapies tab - available from gene pages and patient records.
January 28, 2026 at 12:48 PM
Approved genetic drugs/therapies, from the @n1collaborative.bsky.social, N1C Gene Registry are now displayed in DECIPHER on a new Therapies tab - available from gene pages and patient records.
Links to @uniquecharity.bsky.social single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone
January 28, 2026 at 12:47 PM
Links to @uniquecharity.bsky.social 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
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
December 3, 2025 at 10:17 AM
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
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.bsky.social missense and LoF tracks are available which display the location of gnomAD variants with these predicted molecular consequences.
October 31, 2025 at 10:09 AM
On the protein browser mtDNA @gnomad-project.bsky.social missense and LoF tracks are available which display the location of gnomAD variants with these predicted molecular consequences.
On the genome browser, @gnomad-project.bsky.social mitochondrial variants and coverage tracks are now available. Variants can be coloured by predicted consequence, homoplasmic allele frequency or heteroplasmic allele frequency.
October 31, 2025 at 10:08 AM
On the genome browser, @gnomad-project.bsky.social 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.bsky.social 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
October 31, 2025 at 10:07 AM
On annotation tabs, @gnomad-project.bsky.social 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
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.
September 10, 2025 at 3:50 PM
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.
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.
September 10, 2025 at 3:50 PM
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 @theacmg.bsky.social
September 10, 2025 at 3:49 PM
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 @theacmg.bsky.social
Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants @ebi.embl.org
September 10, 2025 at 3:49 PM
Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants @ebi.embl.org
Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in @gnomad-project.bsky.social l compared to a mitochondrial genome constraint model under neutrality selection.
September 10, 2025 at 3:48 PM
Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in @gnomad-project.bsky.social l compared to a mitochondrial genome constraint model under neutrality selection.
18 additional @gnomad-project.bsky.social 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.
July 10, 2025 at 9:07 AM
18 additional @gnomad-project.bsky.social 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 @varianteffect.bsky.social
July 10, 2025 at 9:06 AM
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 @varianteffect.bsky.social
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.
June 18, 2025 at 2:26 PM
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.
@gnomad-project.bsky.social v4.1 sequence variant data is now displayed; re-annotated using @ensembl.bsky.social Variant Effect Predictor so molecular consequences reflect the gene build on the DECIPHER website. Data will be re-annotated in the future to ensure the annotations remain current
June 18, 2025 at 2:25 PM
@gnomad-project.bsky.social v4.1 sequence variant data is now displayed; re-annotated using @ensembl.bsky.social Variant Effect Predictor so molecular consequences reflect the gene build on the DECIPHER website. Data will be re-annotated in the future to ensure the annotations remain current
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 @gene2phenotype.bsky.social
May 7, 2025 at 1:29 PM
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 @gene2phenotype.bsky.social
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.
May 7, 2025 at 1:29 PM
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 @mhaniffa.bsky.social
May 7, 2025 at 1:29 PM
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 @mhaniffa.bsky.social
Can you spare 5 minutes to help shape the future development of DECIPHER?
Your views are extremely important to us.
Please access our user survey here: docs.google.com/forms/d/e/1F...
Your views are extremely important to us.
Please access our user survey here: docs.google.com/forms/d/e/1F...
March 24, 2025 at 2:37 PM
Can you spare 5 minutes to help shape the future development of DECIPHER?
Your views are extremely important to us.
Please access our user survey here: docs.google.com/forms/d/e/1F...
Your views are extremely important to us.
Please access our user survey here: docs.google.com/forms/d/e/1F...
The pathogenicity of DECIPHER and ClinVar variants are now displayed in bold on variant and protein variant pages to make it clearer if the variant has been classified as being pathogenic or benign
March 21, 2025 at 12:19 PM
The pathogenicity of DECIPHER and ClinVar variants are now displayed in bold on variant and protein variant pages to make it clearer if the variant has been classified as being pathogenic or benign
The display of @gene2phenotype.bsky.social (G2P) data has been updated to reflect the new data structure of curated Locus-Genotype-Mechanism-Disease-Evidence threads which allow for precise definition of the clinical phenotype and molecular basis of a given condition @ebi.embl.org
March 21, 2025 at 12:19 PM
The display of @gene2phenotype.bsky.social (G2P) data has been updated to reflect the new data structure of curated Locus-Genotype-Mechanism-Disease-Evidence threads which allow for precise definition of the clinical phenotype and molecular basis of a given condition @ebi.embl.org
DECIPHER is proud to have made an impact on rare disease research over the last 20 years; more than 4000 publications have cited the platform.
February 28, 2025 at 2:28 PM
DECIPHER is proud to have made an impact on rare disease research over the last 20 years; more than 4000 publications have cited the platform.
DECIPHER users can now search for patient matches in Boston Children’s Hospital seqr in addition to PhenomeCentral, Broad seqr, GeneMatcher, RD-connect and MyGene2 using Matchmaker Exchange
January 8, 2025 at 4:05 PM
DECIPHER users can now search for patient matches in Boston Children’s Hospital seqr in addition to PhenomeCentral, Broad seqr, GeneMatcher, RD-connect and MyGene2 using Matchmaker Exchange
A @gnomad-project.bsky.social Short Tandem Repeat track is now available on the genome browser which displays information about 60 disease associated repeat loci. The associated diseases are displayed along with the normal and pathogenic repeat lengths, and links to STRipy
January 8, 2025 at 4:04 PM
A @gnomad-project.bsky.social Short Tandem Repeat track is now available on the genome browser which displays information about 60 disease associated repeat loci. The associated diseases are displayed along with the normal and pathogenic repeat lengths, and links to STRipy