🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies. Congratulations to all three teams! 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41...

Excited to support ESHG-Young Committee activities and very happy to be part of this amazing team 💙

New epigene unlocked🧬

Very pleased to share our latest paper published in Cell: BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell www.cell.com/cell/fulltex... @cellpress.bsky.social, @cp-cell.bsky.social, @ruizhideng.bsky.social #enhancer here is a thread about our findings:

20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft-imrare.bsky.social clinical director Prof Banka Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬 #MDC25

A feature in Nature examines the argument among researchers about if ‘novel’ AI-generated works should be considered plagiarism. #Academicsky 🧪

bioRxiv has a dedicated section for negative results. Use it. Share negative results. Your colleagues will appreciate it.

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

New ENCODE4 long-read RNA-seq transcripts track for hg38 and mm10. Triplets (e.g. [1,1,3]) indicate start site, exon combination, and stop site for each transcript. Enrichment scores show how these change across tissue and cell line samples. Read more: genome.ucsc.edu/gold...

🚀 Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! 🧬🔀 Out now in Nature Reviews Genetics: www.nature.com/articles/s41... #3D-Genome #StructuralVariants #uksh

📢 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.

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 www.nature.com/articles/s41...

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...

ModelMatcher allows to find scientists with expertise in a gene, pathway etc that can help to provide additional evidence. #eshg2025

Oxford Nanopore Tech Update LC2025. My full analysis of what this means for NGS and Multi-Omics, including the new Proteomics PoC. open.substack.com/pub/albertvi...

Solvathons are a large team efforts to solve rare disease cases. #eshg2025

#eshg2025 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 #eshg2026 in Gothenburg!

GertJan van Ommen Citation Awards: 1. Analysis of large-language model versus human performance for genetics questions. 2. Dutch Pharmacogenetics Working Group (DPWG) guideline 3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing #ESHG2025

#ESHG2025 Poster Prize: Honorary Mentions: - Ivana Džinovic (Munich, Germany) - Noemi Castelluccio (Ghent, Belgium) - Hilal Piril Saraçoglu (Istanbul, Turkey) - Chiara Leso (Turin, Italy) - Rhys Dore (London, United Kingdom)

Best Poster in Clinical Research Rebeka Luknárová, Munich, Germany P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"

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

#ESHG2025 Isabelle Oberlé Award: Best presentation by an ECR on research concerning the genetics of intellectual disability. Natalie B. Tan, Parkville, Australia "UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"

#ESHG2025 Mia Neri Award for best presentation in cancer research. Jingzhan Lu,Exeter, United Kingdom "Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

ESHG Mentorship scheme awardees 2025 • Nesibe Bulut Turkey to Vienna, Austria • Tea Mladenić Croatia to Jena, Germany • Melda Erdoğdu Turkey to Linköping, Sweden • Lein Dofash Australia to Exeter, UK • Daniela Oliveira Portugal to Stockholm, Sweden #ESHG2025

ESHG Observership scheme awardees 2025 • Purvi Majethia India to Manchester, UK • Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden • Juliana Miranda Cerqueira Finland to Cambridge, UK • Vanessa Sousa Portugal to Leuven, Belgium • Sílvia Pires Portugal to Jena, Germany #ESHG2025

Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS. @ESHG2025

Wrapping up the last concurrent session at #eshg2025! At the Gold Plenary “C32 Beyond common variants – pop sequencing and CNVs” delivered outstanding methods. From haplotype-informed analyses, meta-analyses to genetic diversty—pushing the frontier in decoding rare variants and complex traits. #gwas

Vicente Yepez #ESHG2025 Rare Disease multi-OMICs Solvathons - a disease solving hackathon - make sure you have consent to share Integrated multi-omics in parallel is best DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)

The band are warming up for tonight! 🎸🎶 #ESHG2025

@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky #eshg2025

Come to our SM workshop at Sequencing Square #eshgh2025! @jamesfasham.bsky.social @eshg.bsky.social @eshgyoung.bsky.social

Multiomics approaches enabled identification of a rare CCG repeat expansion that leads to hypermethylation and silencing of BCLAF3 in undiagnosed patients with NDD #eshg2025 -Methylation array: DMRs identif -srWGS: STR identif -RNAseq: gene silencing -LR ONT: validation of methylation+expansion

Proteomics using proximity extension assays on the 100kGP cohort increased diagnostic yield (VUS reclassification) for rare disorders and prioritized genes for targeted WGS reanalysis #eshg2025

If you are a member of @eshg.bsky.social do not forget to join the general meeting today at 12:15 #eshg2025

📍Second day of #ESHG2025 and here’s a quick recap of this morning’s sessions: 🧬 W04 – Long-read sequencing for beginners A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!

What types of variants are most commonly missed? #eshg2025

Elfride de Baere talking about the role of UCNEs in retinal disorders #eshg2025 UCNEs: -ultraconserved regions in the genome spanning>200bp -4351 unique UCNEs -active UCNE located upstream PAX6 gene

Very nice educational session on how to detect difficult variants on IGV with LRGS! #eshg2025

Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with @illumina Constellation technology Haven't heard about this yet? - see P23.008B at #ESHG2025 @ExeterGenomes @nihrexeterbrc.bsky.social @exeter.ac.uk

Johnny Bou-Rouphael #ESHG2025 De novo variants in splicing factor SF1 lead to new NDD 15 individuals (missense/pLoF) Highly expr in neural progenitors Upregulation of dev. genes, many panelApp ID green Leads to alternative splicing: 241 differentially regulated #MorbidGene

Siddharth Banka #ESHG2025 R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene Clinical features of these new "RNU"pathies - Hypotonia, macrocephaly, seizures, FTT - explain 10-15 / 1000 rare NDDs www.medrxiv.org/content/10.1...

What's new with RNU? First time for ESHG to have a dedicated session for these really cool disorders! #eshg2025

Amazing work from RUMC team showing that HiFi LRGS is ready to be implemented as new standard for rare disease diagnostics #eshg2025

Join the genetics comunity on Bluesky! @eshg.bsky.social has prepared a bsky starter pack to help foster a stronger community on this platform. Follow these suggested accounts and stay informed about #ESHG2025 and more.

Pangenome is to represent 350 individuals, 700 haplotypes. #eshg2025

Thank you @eshgyoung.bsky.social for the opportunity to discuss about Romanian young geneticists training programe, challenges and future perspectives at the Get2Gether event! #eshg2025

Totally recommend these straight-out-of-the-oven Nutella pancakes from the GenQA booth! #eshg2025

Quite a record for #eshg2025! Amazing numbers in abstract submissions and partipants this year!

A warm welcome from @eshg.bsky.social President William Newman! The fantastic #eshg2025 has officially got statred in Milan! 🤩

Can we make a hashtag for #SciandGelato #ESHG2025? Gelato on me if you have a count for the number of times @ahoischen.bsky.social mentioned gelato in his talk.