Great start of the “3rd Channelopathy Meeting Tübingen Genetic epilepsies and other neuronal ion channel disorders: Mechanisms and therapeutic perspectives; 23rd-25th September 2025, Tübingen, Germany”. Here the first DNA was isolated - ever.

Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities. See you all in Pavia for #EuroDysmorpho 2026! @eshg.bsky.social @silk93.bsky.social

Starting day two at #nvhg2025 with some great talks! Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.

…time to fasten your seatbelts @nvhg.bsky.social #nvhg2025 for the evening plenary by the one-and-only Chris Mason. …I’d be disappointed if he could squeeze the big 500degree plan in less then 200 slides!

Great delivery of his #nvhg2025 presentation by @wolfram-hops.bsky.social! …the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!

This week is “postdoc” appreciation week! And yes, I am extremely grateful for all amazing work done by postdocs - past and present. In particular the wonderful Tuomo Mantere @bartvds.bsky.social @lydiasagath.bsky.social Cas van der Made Mariolina Bruno & Emil Vorsteveld.

Looking forward to #nvhg2025! Great science ahead - and catching up with friends, colleagues and collaborators. @nvhg.bsky.social

Great fun - and an honor we hosted the “long-read technologies hackathon” in Nijmegen Radboudumc. Amazing effort by many great colleagues including: Lisenka Vissers, Christian Gilissen, Marloes Steehouwer, Bart van der Sanden, Lydia Sagath, Wouter Steyaert, Galuh Astuti and many others!

We now have an open post-doc position in the lab: crick.wd3.myworkdayjobs.com/External/job... Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.

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...

📢 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.

We're thrilled to be recognized in the new National Rare Disease Strategy as an advance in rare disease research here in Ireland. This strategy is a massive step forward for the rare disease community and a clear commitment from the Department of Health. Bravo to all involved! 👏

FYI: New online! Multiplexed assays of variant effect for clinical variant interpretation

Last day of the „informal Nijmegen summer school for human genetics“. Had a great week with ~40 international visitors. With all enthusiasm for exomes, genomes, long read genomes, optical genome mapping - and applications from research to diagnostics & care the future for human genetics looks great.

The Platinum Pedigree: a long-read benchmark for genetic variants. #HumanGenome #ReferenceGenome #PlatinumPedigree #LongReads #Benchmarking #GeneticVariants @natmethods.nature.com 🧬 🖥️ www.nature.com/articles/s41...

Leena Peltonen School of Human Genetics in full-swing! @gosiatrynka.bsky.social @dgmacarthur.bsky.social @bpasaniuc.bsky.social @tuuliel.bsky.social @hilarycmartin.bsky.social @sashagusevposts.bsky.social @zkutalik.bsky.social @mashaals.bsky.social @alemedinarivera.bsky.social

Postdoc in genomics? want to run your own lab - own direction, own vision? Want to blend AI, genomics in yet clever ways? Want to work in an English speaking institute, situated in beautiful Heidelberg - home of the oldest university in Germany with a vibrant academic culture? Check this out 👇

To all post-docs: The Genome Biology dept ‪@embl.org has an Independent faculty position. Fantastic place to set up your lab –great package: core funding, fantastic Ph.D. students, cutting edge core facilities & great colleagues. Closing date Sept 19th embl.wd103.myworkdayjobs.com/en-US/EMBL/j...

🔔Paper alert! Extremely excited to share a preprint from our lab! Spearheaded by @axel-schmidt.bsky.social, a super talented medical & computational geneticist, we studied latent Epstein-Barr virus (EBV) infection at population-scale. Interested in how this works & what we found? Read along! 👇

Where do short reads fall short? Dr. Alex Hoischen (@ahoischen.bsky.social) is using #PacBio HiFi sequencing to uncover elusive variants in rare disease research at Radboud University. See how long reads are changing diagnostics. Watch the full interview series: bit.ly/4lGTkVi #PacBioSPRQ

Indeed a great two day event to arrange all invited sessions (plenary, symposia, educational sessions, workshops, G2G) and topics/trends to show the breadth and beauty of our field! If majority of invitees agree we’ll have a total record-breaking program!

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!

“Nach dem Spiel ist vor dem Spiel”. Only 3 weeks since a fantastic #eshg2025 now on my way to Vienna to design the (invited part of the) program for #eshg2026 in Gothenburg. Thanks to all 38 SPC - as well as other @eshg.bsky.social members - for submitting so many great proposals! #TooMuchGoodStuff

Textbooks: “Enhancers are just a bunch of TFBSs” But how do they REALLY work? New paper with many contributors here @berkeleylab.lbl.gov, @anshulkundaje.bsky.social, @anusri.bsky.social A 🧵 (1/n) Free access link: rdcu.be/erD22

STAMP:Single cell Transcriptomics Analysis & Multimodal Profiling-cheap scprofiling-MILLIONS of cells, multimodal, pertubation expts & tissue atlas'ing at scale.Thx to brilliant colleagues @lgmartelotto.bsky.social Holger Heyn & our amazing teams. @cellpress.bsky.social www.cell.com/cell/abstrac...

📢 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... 📩 Past registrants will receive the Zoom link automatically.

Thanks to Juliana Mazzeu for the invitation to Brasília to speak at your conference: sbg.org.br/eventos/rbcc... Happy to share latest insights into cytogenetics and cytogenomics enabled by optical genome mapping and long-read genome sequencing! #FutureForCytogeneticsIsBright #CytogeneticsRevolution

Very excited to share I’ll be starting my own group at University of Utah in the Department of Human Genetics in the new year! Reach out if you are interested! vollgerlab.com

Congrats again to @dgmacarthur.bsky.social - well deserved recognition! @eshg.bsky.social is proud to grant our society’s award to you - keep up the amazing work.

Huge congrats to Prof Daniel MacArthur on receiving the prestigious ESHG award for his outstanding work in human genetics. He leads the Centre for Population Genomics, a joint initiative of Garvan & @MCRI_for_kids #ESHG2025 Read more: ow.ly/p8vi50W3Oee

We have 2-3 group leader positions opening @fimm-uh.bsky.social !! We are looking for outstanding candidates in human genetics and precision medicine. This time we have a focus on population health data science. E.g. AI for EHR/health data        Generous starting package 💰 shorturl.at/FAk6n

I loved it once again! Thanks for everyone making #eshg2025 happen! #eshg2025 —> #eshg2026 Any suggestions for improvement ; ideas for topics and speakers? Await the formal survey by @eshg.bsky.social but you can also let me know personally: docs.google.com/document/d/1...

Welcome to the ESHG 2025 – #hybridconference! Join the conversation by using #eshg2025. With this hashtag you will also find the latest updates. See you at 8:30 CEST for the first sessions of today!

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025 >250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable! Pre-print now out: www.medrxiv.org/content/10.1... Talos is #portable #opensource: github.com/populationge...

Matchmaker Exchange - 10 years! And some stats. #eshg2025

#ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease

Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell @DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy

Our team had an incredible time at #ESHG2025 learning about advancements in genomics and the associated ELSI. Inspiring to see groundbreaking research shaping the future of genomic healthcare and to connect with leading minds in the field. We’re excited to bring these insights back to our work! 🧬

@zornitza.bsky.social says it best. Even after 4 days of science Katalin Karikó's Mendel Lecture feels special. #eshg2025 #genetics #RNA

#ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social

What a wonderful lecture delivered by a wonderful woman!

Very proud to have @stjuderesearch.bsky.social grad student @cwlaflamme.bsky.social represent the Mefford lab and present her work at #eshg2025! 🧬 🧠 🧬 #proudPI P.S. she is graduating in Nov/Dec and looking for a 2026 postdoc position! 🌟

Proud supervisor moment for the Exeter Rare Disease Group! Really delighted for Allison Newman @eshg.bsky.social Early Career Researcher Award That's 3 in a row for our team @exeter.ac.uk 🙌 #ESHG2025 #Genomics @jamesfasham.bsky.social

Grateful to EduComm @eshg.bsky.social for this amazing opportunity. Huge thanks to @gosiatrynka.bsky.social for hosting me at @sangerinstitute.bsky.social and to my supervisor @KatriLindfors for her support. This observership has expanded my academic aspirations ahead for sure. #eshg2025

#eshg2025 what a terrific meeting with such energy! Huge number of young clinicians and scientists with a sprinkling of the golden oldies. Excellent plenaries, concurrent sessions and workshops. What a privilege to be part of this community. Thanks to SPC and VMA for fantastic pgmme and organisation

What a super star 🌟 @dgmacarthur.bsky.social being awarded the #eshg2025 prize and delivering an inspiring prize lecture @garvaninstitute.bsky.social @mcri.bsky.social #dontworkwithassholes

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

🧬Great presentation by our Functional Genomics Team Leader, @annaesteveco.bsky.social, at #eshg2025! 🗣️She showcased our work on “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” 👏 Congratulations, Anna, and well done to the team behind this project! #RareDiseases #CNAG

Excited to be in Milan for #eshg2025! If you’re interested in leading analysis of large, diverse cohorts with WGS and cellular genomic data in Australia, I’d be keen to chat - we’re looking to fill a variety of senior comp bio roles: populationgenomics.org.au/careers/ #eshg25

Rare disease affect 300 millions of people globally. #eshg2025