📣Online now! 📄RetiGene, a comprehensive gene atlas for inherited retinal diseases 🧑‍🤝‍🧑 @carlorivolta.bsky.social @mquinodoz.bsky.social & co

📣New from Liu et al! 📄Unveiling tissue heterogeneity through genomic interaction-encoded image representation of #RNASeq data

📣New from Wang et al! 📄Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program #TOPMed

📣New from Mekzine et al! 📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome

📣New from @vijayganesh.bsky.social & co! 📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

Happy Postdoc Appreciation Week! In honor of this, we are asking PIs to tell us why their postdoc is awesome. Tag your postdocs to show them how much you appreciate them! #MyPostdocIsAwesomeBeacuse #ASHG #HumanGenetics #NPAW2025 #NationalPostdocAppreciationWeek

From trainees to faculty—#ASHG25 is a hub for career growth at every stage, offering opportunities to: ✅Meet & hire colleagues ✅Learn something new Register today: https://bit.ly/46dWz0Z Plan your career fueling schedule: https://bit.ly/4gr4ATV #ASHG #HumanGenetics

🌍 New in Nature: Long-read sequencing of 1019 genomes reveals structural variant (SV) diversity across 26 human populations, providing a global resource for understanding genetic variation and its link to human disease. #Genomics #Pangenome #SVs www.nature.com/articles/s41...

📢Paper alert! WGS of >490K UKB participants across diverse ancestries, combined with rich phenotypic data, unlocks novel genotype–phenotype associations, accelerating precision medicine and global health research. 🌍🧬 #Genomics #UKB #PrecisionMedicine www.nature.com/articles/s41...

Published in EJHG Journal: 📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅ www.nature.com/articles/s41...

📢 Episode 6 of the #ESHG Webinar Series: September 24 at 16:00 CEST 🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications" 💻 Registration is free but required: buff.ly/P6WD5jB 📩 Past registrants will receive the Zoom link automatically.

Nominations are open for the Leena Peltonen Prize 2026 (€10,000). candidates: outstanding young researchers, Early career stage, no age or graduation limit Awardee will give the Leena Peltonen Lecture at #eshg2026 in Gothenburg. 📅 Deadline: 31 Oct 2025 🔗 forms.eshg.org/leena-pelton...

Published in @ejhg-journal.bsky.social: 1️⃣ European Certificate in Medical Genetics & Genomics (ECMGG): buff.ly/CUpaOWd 2️⃣ European Training Requirements for Medical Genetics (ETR-MG): buff.ly/DgCPtde

We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course. Read more:

Thank you so much! This meeting was held on the same day as the farewell symposium of Prof. Frans Cremers @radboudumc.bsky.social, the founder of the @erdc-team.bsky.social #inheritedretinaldiseases www.erdc.info

@jrmarmor.bsky.social from #CABD was one of the keynote speakers of the Genetics of Ocular Development in Ghent in the past days!

The #GoOD2025 meeting is over, it was sooo good to catch up with these lovely people and hear about their fantastic work! Thanks to @elfridedebaere.bsky.social and her team for organising such an amazing event in beautiful Ghent. We had a lot of fun and hope to be back soon!! #goodsocmeeting2025

We’ve just wrapped up an amazing Genetics of Ocular Development (GoOD) Meeting, held on 📅 8–9 September 2025 in Ghent. It was an inspiring programme with brilliant lectures from our invited speakers ✨ Elena Semina ✨ Juan R Martínez-Morales @jrmarmor.bsky.social ✨ Alice Davidson & selected talks

🐸👦🏻 What do a frog and a human have in common? More than you might think, especially when it comes to the eye! 👁️ In this video @elfridedebaere.bsky.social introduces the ENHANCE-MCOR project, the first research project funded by the #GENeHOPEFund: lnkd.in/eswPtYtB

An infant with an inherited life-threatening metabolic condition has responded to a tailored therapy that uses CRISPR to correct a specific mutation go.nature.com/3Jmdbuy

Exciting news! 🎉 The Genetics of Ocular Development (GoOD) Meeting will take place in Ghent, Belgium, 8–9 September 2025 Keynote lectures from Elena Semina, Juan R. Martínez-Morales & Alice Davidson Early registration: open until 31 Aug 2025 👉 goodsoc.org/meetings/2025-meeting

Unique career opportunity regarding Computational Genomics in the field of Reproductive Medicine at the leading @uoe-igc.bsky.social directed by @jorisveltman.bsky.social Joris Veltman! Deadline for applications: 1st September 2025!! #ComputationalGenomics #ReproductiveMedicine #Lecturer

The Human Genetics Scholars Initiative is more than a program; it's a career accelerator! For 2 years gain: 🎟️FREE ASHG membership ✈️All-expenses-paid access for 2 meetings 🧠Dedicated mentorship 💰Career development funds Deadline → 8/18. Apply now: bit.ly/40iRMIk #ASHG #HumanGenetics

Before the discovery of DNA, a man named Gregor Mendel uncovered the foundation for human genetics research by cross-breeding pea plants. Happy birthday, Gregor Mendel!🎊Learn more about his work in genetic inheritance via our Discover Genetics Fact Sheet: bit.ly/3GQS5n2

📣 Join us at the Genetics of Ocular Development (GoOD) Meeting in Ghent, Belgium, 8-9/09/25 🧬 Abstract submission until 16/07/25 goodsoc.org ✨ Exciting line-up ✨ Supported by GoOD @vlaamseoverheid.bsky.social @ds-ugent.bsky.social Lucid #eyegenetics #development #models #diagnosis #therapy

🧬 Exciting programme for #ESHG2026! 🧬 And this is only the beginning! 🌟🌟🌟

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 www.nature.com/articles/s42...

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?... #Genomics #RareDisease #VariantInterpretation #ESHG

Very thankful our ENHANCE-MCOR project has been generously awarded by the GENeHOPE Foundation.

🧬🎤 Very excited for the start of the EMBO Workshop in Enhancer Mechanics and Enhanceropathies this afternoon in Middelfart! Many thanks to the organizers @smandrup.bsky.social @radaiglesiaslab.bsky.social and Minna Kaikkonen for putting together an amazing programme! #EMBOenhanceropathies

For Susanne Mandrup, Professor at the University of Southern Denmark and EMBO Member, doing #research in #Denmark also means nature, balance and connectivity. 🧪 Hear more about what susanne has to say about living and working in Denmark: www.embo.org/people/denma... #LifeSciences

Happy to announce that the preprint about Retigene, our new gene atlas for inherited retinal diseases, is now on-line. www.biorxiv.org/content/10.1...

Congratulations to @mquinodoz.bsky.social @elfnzclk.bsky.social and Dhryata Kamdar at @iobswiss.bsky.social for their wonderful work

Many thanks to the many contributors from the ERDC @erdc-team.bsky.social! Access Retigene data here: retigene.erdc.info

Congratulations Mathieu! @mquinodoz.bsky.social @iobswiss.bsky.social @erdc-team.bsky.social

🧬 NEW DEADLINE ALERT 🧬 Extension until: June 10, 5 PM U.S. ET #ASHG25

The latest @hggadvances.bsky.social paper describes a rare disease Open Science Data Challenge, utilizing data collected systematically on RARE-X across 27 neurodevelopmental disorders, which generated solutions to identify previously underappreciated symptoms: www.cell.com/hgg-advances... #ASHG

HEY! The countdown is on—abstract submissions for #ASHG25 close in 11 days! 🔬 Share your research. 🤝 Build your network. ✨ Inspire your field. 🗓️ Submit now: www.ashg.org/meetings/202... #ASHG #HumanGenetics

📢 Follow ESHG on Bluesky! @eshg.bsky.social‬! We’ve prepared a starter package to help you join easily. 🔗 go.bsky.app/RsMKmCE Let’s build the ESHG community together!

Make sure to watch the Sunday Daily Highlights by SPC Member Nicolas Chatron and join us again tomorrow, at 8:30 CEST: youtu.be/jzP4LNt5xh4

Have you checked out the submitted abstracts of #eshg2025 in the conference programme yet? Registered participants have access to all posters on the virtual conference platform at cattendee.abstractsonline.com/meeting/21105

We hope you enjoyed the second day of #eshg2025 – make sure to check the Monday Daily Highlights by SPC Member Brunella Franco and join us again tomorrow, at 8:30 CEST: youtu.be/WVsKwid0cY0

Interested in the latest #genetics research results? Join the Late Breaking Abstracts Session at #eshg2025 at 10:30 CEST chaired by our AMC chair Joris Veltman and ESHG-Y chair Mridul Johari.

Heading to the ESHG Networking Event at South Hall? Don’t forget to bring your ticket! Check out the Tuesday Daily Highlights by the incoming SPC Member Andrew Sinclair: youtu.be/erTx47TxUUw

Missed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!

Make sure to join this year’s Mendel Lecture by Katalin Karikó at 13:30 CEST in the Gold Room followed by the ESHG Awardee Daniel MacArthur #eshg2025

Congrats Eva! 🧬👌🧬

#ESHG2025 Best Poster in Basic Research Eva Vanbelleghem, Ghent, Belgium P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"

ESHG2025# Early Career awards: For outstanding science presented at the conference - Allison Newman, Exeter, UK - Hristiana Lyubenova, Berlin, Germany - Robin J. Hofmeister, Lausanne, Switzerland - Pau Clavell-Revelles, Barcelona, Spain