š§¬ 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, ā¬ļø diagnostic splice findings by 11.7%.
#ESHG2026
#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 Day2: Elsa Leitao, Essen presenting #ReNUSyndrome non-coding variants data, focusing on RNU2-2.
ā¢ gradient model, bridging categories of autosomal-dominant and -recessive disease
ā¢ patient phenotyping of neurodev. disorder, #epilepsy
Chairs: @christiangilissen.bsky.social, Rebeka Luknarova
#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
#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 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 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.
#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.
James Fasham
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š¢ Join us now at the #eshg2026 Social Media Workshop! š±āØ
š¤ 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
