#eshg2026 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2027 in Rotterdam!

📢 Congratulations to the winners of the GertJan Van Ommen Citation Awards #ESHG2026! 🧬

That’s a wrap on #ESHG2026! 🇸🇪 From engaging conversations at our poster sessions and a fantastic turnout at our Corporate Satellite Symposium to an energetic party at Kooperativet, thank you for making it an amazing week with #PacBio. Check out our full event recap video below!

#eshg2026 Inspiration to follow up with the online recorded talks below:

European Society of Human Genetics@eshg.bsky.social · 2mo ago

#eshg2026 Early Career awards: Bryce Sebastian Rampal (Montréal, CA) Tanja Frey (Zurich-Schlieren, CH) Anthony Edward Francis McGuigan (Oxford, UK) Irena Josephina Johanna Muffels (Utrecht, NL) Samuel Moix (Lausanne, CH) Lea M Urpa (Helsinki, FI) James Russ-Silsby (Exeter, UK)

Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏

#eshg2026 Time for the 2026 Award lectures! 🏅 • ELPAG Award Anne Cambon-Thomsen • ESHG Awardee Tuuli Lappalainen • Mendel Lecture by Guillaume Canaud

L Snijders Blok. A pathogenic CCG repeat expansions in CHD3 causes Snijders Blok-Campeau syndrome via epigenetic silencing. Fantastic work and presentation. The work suggests a potentially unrecognised cause of NDD. Excited about the potential of lrGS. #eshg2026

#eshg2026 Day 4: Johnny Bou, Paris on organoid data on MED12/MED13L neurodevelopmental effects • NPC transcriptome: opposite effects of different SNV and hypomorphic variants • microelectrode array (MEA) of differentiated iPSC confirms pathogenic alterations • more MED... genes disease relevant

#eshg2026 Day 4: Reza Ataei, London ON stressing relevance of circRNA in health and disease • critical role in "sponging"/absorbing miRNA • stabilization and guidance of protein • indirect evidence for ALS relevance More steps for research->clinic Chairs: Natalie Tan, @christeldepienne.bsky.social

#eshg2026 Day 4: Ilaria Parenti, @unidue.bsky.social Variants in DNA binding proteins, or cohesinopathies with specific episignatures: MAU2 and interaction with CdL gene NIPL. #genetics #epigenetics #raredisease

#eshg2026 Day 4: Andrew Stergachis, Seattle presenting single-cell epigenetic data of highly dynamic cell states. • Epigenomics overcomes sparse data restraints • Solves Mendelian disorder cases #genetics #epigenetics

#eshg2026 E. Dixon and I were wondering: how many science + runner folks are currently in Gothenburg to organize a spontaneous run? 👟 🏅 Everyone welcome, open to all paces

#eshg2026 Day 3: Variants we almost missed. Great interactive session with difficult to assess cases. CNV, variants frequent in population and yet (recessive) disease causative. Including longread data from @radboudumc.bsky.social #genetics #diagnostics

Let's celebrate the diversity at #eshg2026. Show us your country's hidden gem! Reply with a photo of your favourite place, food, or anything you are proud of. Look at the map below to see where participants this year are from.

#eshg2026 Day 3: Science communicators @jamesfasham.bsky.social, @aleenamolbio.bsky.social, @tomwrightuom.bsky.social share current knowledge and own behind-the-scenes tour of #scicom in #genetics

Mohamed Wafik@mo-wafik.bsky.social · 2mo ago

📢 Join us now at the #eshg2026 Social Media Workshop! 📱✨ 🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking. @jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social

#eshg2026 Lightning sessions: Bioinformatics & more in full progress with cancer Single-Cell data, kidney gene association studies and pangenome haplotype diversity in CYP genes. #genetics #bioinformatics

#eshg2026 Day 3: Use it or lose it: example of body symmetry in reproductive organs. Pseudogene prevalence across evolution, here avian and reptiles reflects biological changes, including novel factors CIROP+CIROZ.

#eshg2026 @claucarvalho.bsky.social presenting new discoveries of large inversions in the genome in neurodevelopmental disorders, e.g. Coffin-Siris Syndrome complex rearrangement of ARID1B region #genetics #neuroscience

#eshg2026 Long-read session: Adam Phillippy, @johnshopkins Univ reporting on clinical effects of large DNA events, focusing on acrocentric regions that aren't resolved in e.g. Hg38 ref genome. #genetics

#eshg2026 Day 3: Anna Lindstrand and Alexandre Reymond kicking off the long-read session.

🧬 Precomputed SpliceAI may need updating Reubena Dawes (Oxford) Updating transcript models and extending splice prediction distance (500bp) rescued 30 additional candidate splice variants in 7,221 NDD cases from the 100kGP, ⬆️ diagnostic splice findings by 11.7%. #ESHG2026

#eshg2026 Day2: Elsa Leitao, Essen presenting #ReNUSyndrome non-coding variants data, focusing on RNU2-2. • gradient model, bridging categories of autosomal-dominant and -recessive disease • patient phenotyping of neurodev. disorder, #epilepsy Chairs: @christiangilissen.bsky.social, Rebeka Luknarova

#eshg2026 Day 2: Pilong Li, Beijing. TCF4 neurodevelopmental disorder: Liquid phase transition as measured by nuclear imaging and brain organoid development correlates with patient severity. SNV appear to be more severe, however on a spectrum for SV and SNV. #genetics #neurogenetics

S Domcke. Barcoded monoclonal embryoid bodies allow quantification of the consequences of TF perturbations and inter-individual heterogeneity. #eshg2026

Preview of the gnomAD-LR browser. Phased haplotypes and methylation will be available. The browser is coming this summer. #eshg2026

#eshg2026 Day 2: Denis Hnisz, Berlin: genomic architecture of intrinsically disordered regions (IDR). HOXD13 repeat expansions, HMGB1 fs causing complex malformations in patients. Nuclei are mispartitioned at cellular level in several other gene's frame shift effects.

#eshg2026 Amandine Santini, Rouen: progress of the Epi2Diag project · comparison of methods · sensitivity vs. specificity Analysis of 29 genes in focus, follow her work for updates on RNU4-2, 2-2 with @nickywhiffin.bsky.social @christeldepienne.bsky.social and work on CHD3, +CdL genes #genetics

#eshg2026 Day 2: Stephan Zürchner, Miami Miller Sch. of Medicine presenting detection of novel disease-associated #repeatexpansions. · population data: All of us 400k genomes · healthy group w/ expansions in FGF14, protective mechanism · pathogenic repeats through linkage analysis, founder effects

#dessertsofeshg #eshg2026 #genetics #endoftheday

#eshg2026 The NMD variant that isn't. Juliet Hampstead from @radboudumc.bsky.social on Protein-truncating Variants (PTVs) that are 'reecued' by read-through. Follow their work for systemic analysis of genes that can escape nonsense-mediated decay (NMD) #genetics #bioinformatics