🌟 Applications for the 2026 Leena Peltonen School of Human Genetics are open! Back after a great 2025 edition: ~20 global leaders and ~20 PhD students shaping the future of genomics. 📅 July 26–30, 2026 📍 Wellcome Genome Campus, UK 📝 Apply by March 6 → www.lpshg.com

Thanks @genomeweb.bsky.social for the nice interview and coverage of our long-read genome efforts @radboudumc.bsky.social @christiangilissen.bsky.social @bartvds.bsky.social @lydiasagath.bsky.social www.genomeweb.com/sequencing/r...

On my way to Heidelberg. Looking forward to connect with @erdera.bsky.social and other CRN collaborators. Joint global efforts for rare diseases!

🚨 Last week to register for the 2nd International Conference on #CRNs! Global experts, fresh insights, inspiring sessions… don’t miss this standout event! 👉 Check speakers & session themes and register before it closes: https://loom.ly/1fhf8zI#CRNs#RareDiseases #ClinicalResearch #ERDERA

Spatial Touchstone brings quality control to spatial transcriptomics #NBTintheNews via @stjuderesearch.bsky.social www.stjude.org/media-resour...

Epigenomic and transcriptomic germ-free ageing atlas reveals sterile inflammation as an intrinsic ageing feature #SingleCell 🧪🧬🖥️ https://www.biorxiv.org/content/10.1101/2025.11.19.689100v1

Epigenomic and transcriptomic germ-free ageing atlas reveals sterile inflammation as an intrinsic ageing feature https://www.biorxiv.org/content/10.1101/2025.11.19.689100v1

🧬 Episode 8 of the ESHG Webinar Series is coming up on Nov 26, 2025 at 16:00 CET! Lisenka Vissers (Radboudumc, NL) will speak on translating long-read genome sequencing into clinical applications for rare diseases. Free via Zoom – registration required. wma.eventsair.com/eshg-webinar...

Dank Stijn Goossens en Nina van den Dungen voor het interview waarin ik samen met collega Wendy van Zelst-Stams namens ons geweldig team inzichten in long-read genome sequencing mocht geven. BNR Beter aflevering: lnkd.in/eetSKFBd Ook op Spotify: lnkd.in/eVC-Fzxt

Long-read genome sequencing is new first-tier generic test in diagnostics of rare diseases So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases @radboudumc.bsky.social. www.radboudumc.nl/en/news-item... (1/n)

Great to see our new preprint our. Thanks for everybody of the HiFi Solves EMEA consortium for their valuable contribution - this study was driven by the wonderful @bartvds.bsky.social @radboudumc.bsky.social! Exciting to show clinical utility of lrGS in multi-center study.

A new multi-center study from the EMEA HiFi Solves Consortium shows the clinical research potential of HiFi. Combined with our latest informatics pipeline, HiFi identified 100% of clinically relevant variants across 11 complex regions, including those short reads missed. 👉 bit.ly/4oqMWCY

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes https://www.medrxiv.org/content/10.1101/2025.10.29.25339045v1

Our November 2025 issue is now live: go.nature.com/4hlXnVx Topics include: the impact of structural variation on the 3D genome in disease; single-cell DNA sequencing of somatic mutations; the role of transcription compartments in gene regulation; synonymous mutations and their consequences

Our featured article: Structural variants in the 3D genome as drivers of disease - Review by Varun K. A. Sreenivasan, Verónica Yumiceba & Malte Spielmann go.nature.com/4oiPdPQ Free to read here: rdcu.be/eu0KR

Super excited about first Shendure/Baker Lab collaboration & preprint on a multiplex sequencing-based strategy for screening de novo proteome editors in mammalian cells. Kudos to the brilliant Chase Suiter (not here) & @greenahn.bsky.social on the work! Preprint here: www.biorxiv.org/content/10.1...

With #ashg25 starting my #FOMO is getting real - so sorry to miss this year’s edition- esp. to continue to build bridges between our amazing societies @geneticssociety.bsky.social & @eshg.bsky.social. Have a fab conference all - regards to all friends and collaborators and keep the “tweets” coming!

#PacBio announces major upcoming advances for #Revio and #Vega designed to lower genome costs, expand multiomic capabilities, and support regulated research. The SPRQ-Nx chemistry, now in beta access, delivers complete genomes for under $300 at scale. View the press release: bit.ly/4o06eyH

Getting excited for #ASHG25. The must see talk is tomorrow at 1:30 by Qiuhui (Iris) Li presenting the first large-scale integration of long-read genome sequencing with electronic health record data across >1000 All of Us participants meetings.ashg.org/event/ASHG25...

PacBio: $300 Genome Via Chemistry Update 🧬🖥️ omicsomics.blogspot.com/2025/10/pacb...

📢 📢 📢 Join African Society of Human Genetics and @eshgyoung.bsky.social lunch seminar series 📢 📢 📢 📅 The first episode is on 2nd October 13:00-14:00 CET (12:00-13:00 WAT) Join us on teams (no pre-registration needed): lnkd.in/ecwt-Nva Meeting ID: 328 781 679 974 3 Passcode: F63nX7JV

What a great day and thesis defense by Cas van der Made. A very proud PI moment for me, Frank van de Veerdonk and Mihai Netea! Cas not only presented his impressive thesis - but his outstanding offer was recognized with a “cum laude” distinction. Well done and very well deserved!

🚂 The T2T train keeps rolling: "The formation and propagation of human Robertsonian chromosomes" with Gerton and Garrison labs is out! What's a Robertsonian chromosome? Let Jen tell you herself in this great video, or read our paper: [1/3] 📺 youtu.be/JmlY5omxQVc 📄 www.nature.com/articles/s41...

Wow! If this holds up, it will be a triumph of science (i.e., of many hundreds of dedicated scientists over decades) over a devastating disease.

Wow! Amazing - and first glimpses of hope for patients and families with this devastating rare disease. www.bbc.com/news/article...

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...