@helenvfirth.bsky.social
Reposted
Super-simple application of pathogenicity evidence during variant assessment in @deciphergenomics.bsky.social - even for complicated PVS1 in multiexon deletions where the frame is preserved - confirming a likely diagnosis.
September 11, 2025 at 8:25 AM
Super-simple application of pathogenicity evidence during variant assessment in @deciphergenomics.bsky.social - even for complicated PVS1 in multiexon deletions where the frame is preserved - confirming a likely diagnosis.
Really cool addition to DECIPHER! Give it a try and be amazed what you can see and discover!
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 7:33 PM
Really cool addition to DECIPHER! Give it a try and be amazed what you can see and discover!
Reposted
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
Such a useful feature to have this customised PubMed search embedded in DECIPHER. Simple copy the PMID and paste it into the citation tab to get access to information relevant to your variant of interest.
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 4:40 PM
Such a useful feature to have this customised PubMed search embedded in DECIPHER. Simple copy the PMID and paste it into the citation tab to get access to information relevant to your variant of interest.
Reposted
Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!
September 10, 2025 at 9:54 AM
Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!
Reposted
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
www.ft.com/content/25dd...
Curiosity underlies a breakthrough in rare disease
We must recognise and protect the pipelines that lead from research to real-world benefit
www.ft.com
May 29, 2025 at 8:44 AM
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
www.ft.com/content/25dd...
Reposted
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
May 25, 2025 at 6:27 AM
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
Reposted
Embryonic gene expression. Cancer case frequencies. Ear disorders. Oh my! So many interesting research outputs packed into today's DECIPHER release. Head to www.deciphergenomics.org to check them out! 🧬💻
May 7, 2025 at 6:12 PM
Embryonic gene expression. Cancer case frequencies. Ear disorders. Oh my! So many interesting research outputs packed into today's DECIPHER release. Head to www.deciphergenomics.org to check them out! 🧬💻
Reposted
Submit your abstract for the Curating the Clinical Genome conference - deadline is tomorrow.
The abstract deadline for Curating the Clinical Genome is approaching! #CCG2025
Submit by 15 April ⏰
Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile on a global stage.
📅 11 - 13 June
📎Find out more: bit.ly/4gt4EB6
Submit by 15 April ⏰
Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile on a global stage.
📅 11 - 13 June
📎Find out more: bit.ly/4gt4EB6
April 14, 2025 at 1:59 PM
Submit your abstract for the Curating the Clinical Genome conference - deadline is tomorrow.
Fascinating insights into embryonic life from a very productive collaboration between DECIPHER and MuzHaniffa and her talented team @mhaniffa.bsky.social
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 5:48 PM
Fascinating insights into embryonic life from a very productive collaboration between DECIPHER and MuzHaniffa and her talented team @mhaniffa.bsky.social
Reposted
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.
Such a thoughtful and beautiful poem bearing an important message for all working in human genetics.
"Remember that it's not only scientists that read your papers" - sage advice from author of a beautiful poem 'Proband', which began life as a response to our DDD NEJM paper, linking genomic science and its patients. www.consilience-journal.com/issue-17-pro...
Proband — Consilience
www.consilience-journal.com
April 10, 2025 at 2:04 PM
Such a thoughtful and beautiful poem bearing an important message for all working in human genetics.
Reposted
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...
Reposted
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
Reposted
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
March 21, 2025 at 12:18 PM
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
Reposted
Today on #internationaleomensday I’d like to salute one of my all-time favourite collaborators: Prof @carolinefwright.bsky.social. Caroline is a smart and thoughtful scientist, unflinching advocate for her beliefs, and always fun to hang out with. She is also an annoyingly talented musician.
March 8, 2025 at 5:08 PM
Today on #internationaleomensday I’d like to salute one of my all-time favourite collaborators: Prof @carolinefwright.bsky.social. Caroline is a smart and thoughtful scientist, unflinching advocate for her beliefs, and always fun to hang out with. She is also an annoyingly talented musician.
Reposted
Advances in genomic technologies are continuing to pave the way for quicker diagnoses and greater opportunities for therapies.
For #RareDiseaseDay, we caught up with @mehurles.bsky.social to explore how genomics has progressed research and what challenges remain.
ow.ly/By4A50V887a
For #RareDiseaseDay, we caught up with @mehurles.bsky.social to explore how genomics has progressed research and what challenges remain.
ow.ly/By4A50V887a
February 28, 2025 at 10:02 AM
Advances in genomic technologies are continuing to pave the way for quicker diagnoses and greater opportunities for therapies.
For #RareDiseaseDay, we caught up with @mehurles.bsky.social to explore how genomics has progressed research and what challenges remain.
ow.ly/By4A50V887a
For #RareDiseaseDay, we caught up with @mehurles.bsky.social to explore how genomics has progressed research and what challenges remain.
ow.ly/By4A50V887a
Reposted
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.
Reposted
We have launched an updated Gene2Phenotype website with a fresh new look. We now support more detailed disease mechanism information in our expert-curated gene-disease models.
Available at www.ebi.ac.uk/gene2phenotype.
Available at www.ebi.ac.uk/gene2phenotype.
Gene2Phenotype
www.ebi.ac.uk
February 27, 2025 at 1:59 PM
We have launched an updated Gene2Phenotype website with a fresh new look. We now support more detailed disease mechanism information in our expert-curated gene-disease models.
Available at www.ebi.ac.uk/gene2phenotype.
Available at www.ebi.ac.uk/gene2phenotype.
Reposted
Wonderful few days discussing clinical genomics and variant interpretation on the Genome campus. Such a lovely place to be in the sunshine 🌳☀️🧬
February 5, 2025 at 5:23 PM
Wonderful few days discussing clinical genomics and variant interpretation on the Genome campus. Such a lovely place to be in the sunshine 🌳☀️🧬
Reposted
My dad’s first novel, Kind & Sensible, is out now, and it’s made me consider end of life care and the difficulties of decision making in todays society in a totally new way. I hope you read it: amzn.eu/d/5JCwfTx
Kind & Sensible
Kind & Sensible eBook : Firth, Dr John: Amazon.co.uk: Kindle Store
amzn.eu
January 28, 2025 at 12:15 PM
My dad’s first novel, Kind & Sensible, is out now, and it’s made me consider end of life care and the difficulties of decision making in todays society in a totally new way. I hope you read it: amzn.eu/d/5JCwfTx
Reposted
Looking forward to some interesting discussions about newborn genome screening at this @cpmoxford.bsky.social event next month!
The opportunities and questions raised by screening using genomes as opposed to more targeted options.
We're going to explore potential benefits of research with genomic data, and complexities of asking consent for genomic data collection from healthy babies. (Chair: @carolinefwright.bsky.social)
We're going to explore potential benefits of research with genomic data, and complexities of asking consent for genomic data collection from healthy babies. (Chair: @carolinefwright.bsky.social)
January 18, 2025 at 9:24 AM
Looking forward to some interesting discussions about newborn genome screening at this @cpmoxford.bsky.social event next month!
Reposted
Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed. Nearly 4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.
January 8, 2025 at 4:02 PM
Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed. Nearly 4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.
Reposted
Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown jmarshlab.bsky.social @mbadonyi.bsky.social
January 8, 2025 at 4:04 PM
Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown jmarshlab.bsky.social @mbadonyi.bsky.social
Reposted
#january Day 6
As some of us take down decorations today, take a look at this EJHG article from @rachel-horton.bsky.social, Leah Boyle, @drsusieweller.bsky.social & @alucassen.bsky.social about how you can still find the sparkle in pictures of #DNA!:
As some of us take down decorations today, take a look at this EJHG article from @rachel-horton.bsky.social, Leah Boyle, @drsusieweller.bsky.social & @alucassen.bsky.social about how you can still find the sparkle in pictures of #DNA!:
Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests? - European Journal of Human Genetics
European Journal of Human Genetics - Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests?
buff.ly
January 6, 2025 at 1:46 PM
#january Day 6
As some of us take down decorations today, take a look at this EJHG article from @rachel-horton.bsky.social, Leah Boyle, @drsusieweller.bsky.social & @alucassen.bsky.social about how you can still find the sparkle in pictures of #DNA!:
As some of us take down decorations today, take a look at this EJHG article from @rachel-horton.bsky.social, Leah Boyle, @drsusieweller.bsky.social & @alucassen.bsky.social about how you can still find the sparkle in pictures of #DNA!: