What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...

Thanks for a fantastic conference #ESHG2026! An intense few days of science and socialising, very inspiring and great to see friends from around the world. Proud of Team Exeter too, for presenting exciting science with huge translational impact whilst also supporting each other and having fun!

#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!

It is really interesting to chart the increase in sophistication and depth in the rare disease community as we bring forward the "genotype early" or even "genotype first" diagnosis pathways, where as "genotype late" was the more common approach >>>

Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease

Great to see how well received this has been here and on X #eshg2026! Paper has been submitted so watch this space 👀

🧬 Missense ≠ not splice. Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients. #ESHG2026

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

Excited for the plenary session! #eshg2026

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

🚨Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshg.bsky.social 🔹What should we screen for and report? 🔹What about uncertainty and harms? 🔹How can we deliver equitably and at scale? #Genomics #Screening #NewbornScreening 🔗 www.nature.com/collections/...

Danny Cohn (Amsterdam UMC) 💊 Permanent prekallikrein silencing using in vivo CRISPR-Cas9 for hereditary angioedema Phase 3 trial: 87% ⬇️ in attacks vs placebo 62% attack & therapy-free over 6 months. 📄 Hot off the press in time for #ESHG2026! www.nejm.org/doi/full/10....

🎉 What a fantastic evening at the #eshg2026 Networking Event at World of Volvo! A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤 📸 Mikael Göthage/Bildbyrån

Rebecca Ahrens-Nicklas (CHOP) 💊 First-in-human personalised base editing for CPS1 deficiency Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth. pubmed.ncbi.nlm.nih.gov/40373211 #ESHG2026

Heading to the ESHG Networking Event at Volvo World? Don’t forget to bring your badge as your ticket is directly saved on the QR Code! If you have booked an Accompanying Ticket, please come to check-in with your guest, as the additional ticket information is also stored directly on the badge.

#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

We were delighted to share this wonderful collaboration with the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust and The University of Sheffield, aimed at increasing the number of Unique guides. Find them on our Disorder Guides page: rarechromo.org/disorder-gui...

#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

Im a little late to the party (this is beauty of catch up 🔁 ) 🧬 Fabrice Lejeune's explanation of nonsense-mediated mRNA decay has been my favourite educational talk of #ESHG2026 so far. Important topic for understanding how genetic variants contribute, or don't contribute, to rare disease.

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 @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

Just catching up on @deciphergenomics.bsky.social❤️ in the NMD session at #ESHG2026 Francisca Millan "I would like to start with this wonderful overview that DECIPHER provides. Per-gene, it summarizes all the gene-disease associations ... in different databases." (I assist DECIPHER, unpaid role)

#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

🧬 Suzi Walker, Genomics England Can RNAseq help solve more rare disease cases? RNAseq from 7,841 participants in the 100kgp Abberant splicing confirmed in >50% of known case - limited by expression in blood Also new candidate variants identified #ESHG2026

🧬 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

🧬 Missense ≠ not splice. Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients. #ESHG2026

🖼️ P25.064.D They're here! New approach to creating high-quality patient information at scale. Sheffield & Unique working with students, clinicians, families & AI Develop expert-reviewed guides for rare genetic conditions. #ESHG2026 📖 rarechromo.org/disorder-gui...

Amazing talk from Juliane Glaser about how Tranposable Elements insertion leads to limb phenotype in some mice strands and not in others! #eshg2026

🗨️ Enjoying updates from @ruhrsynapse.bsky.social at #ESHG2026, if you're not following maybe check him out!

Standing room only! 🪑 John McDermott introducing pharmacogenomics and population health at Sequencing Square 💊 Katie Snape now speaking on the UK genomic ecosystem and the Adults programme 👵 #eshg2026

👀 will catch up

🧬 #eshg2026 interesting session on ethics & equity in genomics publishing: 👥 Involving citizens in publishing genomics research ✍️ Editorial experiences of negative author behaviours 🌏 Inclusivity & indigenous populations in genomics publishing 🔒 Privacy concerns ⚕️Reproductive health equity

J Veltman. De novo mutations in male infertility. - Monogenic forms of male infertility are largely underexplored and underused in diagnosis - Cohort of 303 patient-parent trios - De novo mutations found in recurrent genes - Enrichment of spliceosome-related genes in pathway analysis #eshg2026

Happy Father's Day from all of us at #eshg2026 🧬💙 We celebrate all fathers, father figures, dads-to-be, and everyone who nurtures, supports, guides, and cares for others in a fatherly role. Whether it's in your genes, family, or simply in your actions, thank you for making a difference every day.

Prof. Pat, the (strictly unofficial) mascot of #eshg2026

What does ethical publishing look like in genomics today? Join the interactive session "The New Ethics of Publishing" at #eshg2026 to discuss inclusive writing, public involvement in research and ethical engagement with journals. 📅 Sunday, June 14 ⏰ 12:15 CEST 📍 F1-3

What has been your favorite session of #esgh2026 so far?

🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2026 MatchMaking! Whether you're ready to take the next step in your career or seeking fresh talent, join us today at the #ESHG-Y booth 600 in Hall B at 12:15 hrs CEST. Let's connect and advance our careers in #genetics together!

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

A. Santini et al. Rouen 🇫🇷 Epi2Diag building evidence for episignatures in NDD diagnosis. Episignature performance not uniform. e.g. 👍 Sotos, NIPBL (not other BafOpaththies) but some others less Retraining classifiers improved several weaker signatures. #ESHG2026

Valente S (Porto) PacBio vs ONT for diagnosing neurological repeat expansion disorders 🧬 Both were effective - PacBio more sensitive repeat genotyping, with spanning reads important - ONT offered greater flexibility for detecting additional variant types #ESHG2026

Bart van der Sanden (Radboudumc) Paraphase alignment / variant caller (PacBio HiFi) Solved 125 variants in paralagous genes Vs 95 Standard HiFi 11 genes, but might replace 134 locus-specific assays - requires good coverage www.cell.com/ajhg/abstrac... #ESHG2026 #IKBKG #PKD1 #PMS2

🧬 Chen X Presents Kivvi, PacBio based method that determines D4Z4 repeat size, for diagnosis of #FSHD Assigns chromosome origin (4 vs 10), permissive haplotype status, and methylation patterns—capturing both FSHD1 and FSHD2-associated variation in a single assay. #ESHG2026

Great to see how well received this has been here and on X #eshg2026! Paper has been submitted so watch this space 👀

Fantastic ongoing debates on Genomic newborn screening both in the room and on BlueSky 👇

Session 1, Day 2: Joris Veltman opens the debate on Genomic Newborn screening 👶 👩‍⚕️👍The audience are mostly clinical geneticists and mostly, cautiously, in favour. 🗝️Key concern regarding disease pentrance #eshg2026 🧵1/n

🤩 return of the #DessertsOfESHG hashtag @yhtacgnol.bsky.social @agnescaruso.bsky.social

📰 Guardian article describing research from #eshg2026 🧬 Could a maternal blood test transform prenatal genetic diagnosis? A new non-invasive fetal sequencing approach may detect thousands of genetic conditions without invasive testing. Read more: www.theguardian.com/lifeandstyle...