European Society of Human Genetics (ESHG)
@eshgsociety
Introducing Eye2Gene: a deep-learning model trained on multimodal retinal imaging (FAF, IR, OCT) to predict causative genes among 63 candidates for inherited retinal diseases, supporting diagnosis and variant prioritization. 👉 app.eye2gene.com nature.com/articles/s4225…
🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes 🔗 Open-access review👇 nature.com/articles/s4143…
The ESHG Education Committee is seeking new members! 🎓Join us in shaping the future of genomics education through mentorship, collaboration, and high-quality training initiatives. Application deadline: July 20, 2025 Start date: September 1, 2025 Apply: eshg.org/educom
Genetic and genomic knowledge is key in today’s clinical practice. Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening. 📚 Start learning now: buff.ly/GciCCGE #Genetics #Genomics #Xpeer #ESHG
📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST 🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures" 💻 Registration is free but required: wma.eventsair.com/eshg-webinar-s… 📩 Past registrants will receive the Zoom link automatically.
New in @ejhg_journal 📢 Comprehensive phenotypic and genotypic characterization of CNOT3-related neurodevelopmental disorders #NDDs: 🧬 51 patients from 42 families 🔍 28 novel variants 📍 Missense variants clustered in key functional domains nature.com/articles/s4143…
ESHG welcomes forthcoming consultations on Greek newborn screening programme. On this topic, the EJHG has opened a call for papers on the use of genetic data in public health screening programmes. Read the full ESHG statement here: tinyurl.com/m8bp6m4m
We are calling for papers for a special issue of EJHG exploring the role of DNA in public health screening. We welcome: -Original research -Reviews -Commentaries Deadline: December 31st, 2025 Submit via: nature.com/collections/dj… @eshgsociety
We are now actively sharing updates, publications, and announcements on Bluesky. If you haven’t connected with us there yet, we’d love to welcome you to our growing community. ⬇️⬇️⬇️ bsky.app/profile/ejhg-j…
📊A semi-automated mtDNA-filtering pipeline combined with MitoPhen-based HPO phenotype similarity scoring was applied to a large cohort of undiagnosed rare disease patients, increasing the diagnostic yield by 0.4%. #SolveRD #mtDNA #RareDisease Read more: cell.com/ajhg/fulltext/…
Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!
Episode 4 of the ESHG Webinar Series is now available on YouTube! Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease. 📺 Watch the recording: youtu.be/pWhienkM6L4?si… #Genomics #RareDisease #VariantInterpretation #ESHG
📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST! 🧬 Speaker: Kaitlin Samocha on variant interpretation using population data 💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar-s… 📩 Past registrants will receive the Zoom link automatically.
The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: eshg.org/news-home/for-… #NewbornScreening #eshg
Still thinking about #eshg2025. Browse through the most vibrant moments of the conference in our photo gallery: flickr.com/photos/1971943…
📢Out in @ejhg_journal Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases. #NDDs #DNAm #Episignature nature.com/articles/s4143…
🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants. This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes. nature.com/articles/s4156…
New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases. #snRNAs
We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…
Exciting news! EJHG is now on Bluesky! Join us for the latest in human genetics research and scientific discussions. #EJHG #Genetics #BlueskySocial Follow us: bsky.app/profile/ejhg-j…
Today was the last day of #ESHG2025! Amazing to see the community come together. Let's carry this momentum forward and discover what happened in EJHG this month! nature.com/ejhg/volumes/3…