helenvfirth.bsky.social

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!

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.

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!

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...

At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social‬ (Sunday 14:15, W10)

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! 🧬💻

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

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.

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...

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 version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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.

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

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.

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.

Wonderful few days discussing clinical genomics and variant interpretation on the Genome campus. Such a lovely place to be in the sunshine 🌳☀️🧬

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

Looking forward to some interesting discussions about newborn genome screening at this @cpmoxford.bsky.social event next month!

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.

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 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!:

Finally, the DDD outcomes paper is fully published - it took many people and many years, but we definitely had an impact on patient care! Genetic diagnoses changed management for >28% of patients, and connected families with support groups, key resources, and reproductive counseling bit.ly/3Zy0Dpq

Wow - happy birthday DECIPHER - and great to see some of the DECIPHER luminaries here in Dublin today for the AI in Genomics meeting! 20 years?! I remember @helenvfirth.bsky.social pitching it to CGS back in the day - what a fabulous project and fabulous team :-)

Happy 20th Birthday DECIPHER The DECIPHER team celebrating the platform facilitating variant classification, patient diagnosis and empowering rare disease research for 20 years. @malloryfreeberg.bsky.social @mehurles.bsky.social @helenvfirth.bsky.social

This is lovely! Enjoy!