🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
James Fasham
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#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
🧬 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
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.
🧬 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
🧬 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
🖼️ 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...
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)
Amazing talk from Juliane Glaser about how Tranposable Elements insertion leads to limb phenotype in some mice strands and not in others! #eshg2026
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.
