Here: focus on TCF4 Pitt-Hopkins-Syndrome.
Also check out TCF4 repeat expansion:
PMID:28118661 and
doi.org/10.1038/s415...
#eshg2026 Day 3: Use it or lose it: example of body symmetry in reproductive organs. Pseudogene prevalence across evolution, here avian and reptiles reflects biological changes, including novel factors CIROP+CIROZ.
🧬 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
R-Synapse
R-Synapse
#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
#eshg2026 Day 3: Anna Lindstrand and Alexandre Reymond kicking off the long-read session.
#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
#eshg2026 Lightning sessions:
Bioinformatics & more in full progress with cancer Single-Cell data, kidney gene association studies and pangenome haplotype diversity in CYP genes. #genetics #bioinformatics
#eshg2026 Day2: Elsa Leitao, Essen presenting #ReNUSyndrome non-coding variants data, focusing on RNU2-2.
• gradient model, bridging categories of autosomal-dominant and -recessive disease
• patient phenotyping of neurodev. disorder, #epilepsy
Chairs: @christiangilissen.bsky.social, Rebeka Luknarova
#eshg2026 Day 2: Pilong Li, Beijing.
TCF4 neurodevelopmental disorder: Liquid phase transition as measured by nuclear imaging and brain organoid development correlates with patient severity. SNV appear to be more severe, however on a spectrum for SV and SNV.
#genetics #neurogenetics
#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
