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Cancer case frequency data compiled by NHS England National Disease Registration Service from NHS Genomic Medicine Service diagnostic laboratories in England is now displayed. Nearly 4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.

The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders Kathryn McGurk James Ware and @cvgenomics | #cardiogen

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. Joe Marsh Mihaly Badonyi

DECIPHER users can now search for patient matches in Boston Children's seqr in addition to PhenomeCentral, Broad Institute seqr, GeneMatcher, RD-Connect and MyGene2 using MatchmakerExchange

🚨 We're hiring! We're seeking a talented Programme Manager to lead our Community Building programme. Join us in shaping the future of sensitive data research! ✅ Drive collaboration and shared standards ✅ Engage stakeholders across the UK ✅ Ensure community voices guide

We are accepting application through Jan 31 for our new PhD program in Health AI at Cedars-Sinai Medical Center in Los Angeles, CA cedars-sinai.edu/education/grad… #artificialintelligence #bioinformatics #datascience #phd #phdchat #gradschool

A publication system based on bioRxiv plus community notes would be INFINITELY SUPERIOR to what we have today, and would cost $10 billion per year less.

The largest medical #AI randomized controlled trial yet performed, enrolling >100,000 women undergoing mammography screening, was published today The Lancet Digital Health The use of A.I. led to 29% higher detection of cancer, no increase of false positives, and reduced workload compared

#HEALTAC2025 will feature panels on "Large Multimodal Models in Healthcare" and "Challenges in AI deployment within NHS", and workshop on "NLP in mental health" by DATAMIND - HDR UK Hub for Mental Health Research; healtac2025.github.io #datasaveslives #NLProc

Come and join us at University of Glasgow on June 16-18th 2025 for the UK's annual text analytics conference. You will particularly hear about #multimodal #AI and #HumanAI collaborative work for #healthcare #LLM #GenAI #HEALTAC2025 , supported by Health Data Research UK (HDR UK) UofG School of Health & Wellbeing CogStack and more

So pleased to see this work published in Nature Communications . Many thanks to the reviewers for their insightful comments and all the co-authors of this study in Edinburgh (Xueyi Shen, Mark James Adams Andrew McIntosh, MarioniGroup) and those who ran analyses in additional cohorts 🧬.

Gene2Phenotype (G2P) has launched an updated website with a fresh new look. Find out more about the new features available 👇 ebi.ac.uk/about/news/upd…

Congratulations to our G2P colleagues on the new website and updated disease-models, which now include more detailed disease mechanism information 🎉🎉🎉🎉

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.

Today the Royal Society will meet to discuss “Fellows’ behaviour”. Without doubt the fellow they will primarily be discussing is Elon Musk. The behaviour may range from his public dissemination of unfounded conspiracy theories to his attacks on the science 🧵 1/38

The display of Gene2Phenotype #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 EMBL-EBI

New publication: An integrative network approach for longitudinal stratification in Parkinson's disease 🧬Ian Simpson🏴󠁧󠁢󠁳󠁣󠁴󠁿 MarioniGroup School of Informatics, The University of Edinburgh Institute of Genetics and Cancer Read more here: doi.org/10.1371/journa…

🧬 80% of #RareDiseases have a genetic cause. At #SimonsSearchlight, we study individuals with single gene conditions & CNVs—160 gene changes + 24 CNVs tied to rare neurodevelopmental disorders. On #NationalDNADay, we celebrate research that helps families find answers. 💡

DECIPHER version 11.31 has been released. See the new features at deciphergenomics.org #variantinterpretation

DeepMind just dropped a 106-page paper unveiling AlphaGenome. This single model could completely redefine how we discover disease-causing mutations and drug targets. This is massive. 🧵