DECIPHER continues to be actively developed Your feedback will help the team understand users’ experiences and identify possible improvements. Ive just done it, it takes less than 5 mins!

@deciphergenomics.bsky.social · 3w ago

The annual DECIPHER user survey is now available ! Please, help us to improve DECIPHER by taking 5 minutes to answer. docs.google.com/forms/d/e/1F... This is a new survey so don’t hesitate to answer it even if you had completed it last year.

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@carolinefwright.bsky.social · 2mo ago

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 👀

James Fasham@jamesfasham.bsky.social · 2mo ago

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

🧬 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

#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...

James Fasham@jamesfasham.bsky.social · 2mo ago

🖼️ 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...

#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

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