Great session about the importance of splicing in diagnosis and treatment of rare disorders!
#eshg2026
This sounds so exciting. Really looking forward to it!
#eshg2026
Excited to support ESHG-Young Committee activities and very happy to be part of this amazing team 💙
Teodora Barbarii
The amazing ESHG-Young Matchmaking event! @eshgyoung.bsky.social @eshg.bsky.social
The official #eshg2026 Starter Pack is ready to go! 🧬
Join the network and help us build the ESHG community on Bluesky!
@eshg.bsky.social @eshgyoung.bsky.social
Teodora Barbarii
Teodora Barbarii
Teodora Barbarii
Teodora Barbarii
Preview of the gnomAD-LR browser. Phased haplotypes and methylation will be available. The browser is coming this summer.
#eshg2026
Preview of the gnomAD-LR browser. Phased haplotypes and methylation will be available. The browser is coming this summer.
#eshg2026
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
👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social
3,171 abstracts from 95 countries:
🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al
👥6,048 participants:
🙋♂️🙋♀️4,812 in person
💻 🖥️1,248 online
⛅️ Fascinating word cloud from all presentation titles
🇸🇪 It’s good to be in Gothenburg!
#RareDisease
#Genomics
Tom Wright
James Fasham
🧬 Fascinating #esh2026 session on RNA splicing and rare disease genetics. From RNU2-2–related disorders to SpliceAI triaging and iPSC-derived brain models.
Understanding splicing is transforming diagnosis and therapeutic discovery 🚀🔬 #RareDisease #Genomics
What has been your favorite session of #esgh2026 so far?
