@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky
#eshg2025

Come to our SM workshop at Sequencing Square #eshgh2025!

@jamesfasham.bsky.social @eshg.bsky.social @eshgyoung.bsky.social

Multiomics approaches enabled identification of a rare CCG repeat expansion that leads to hypermethylation and silencing of BCLAF3 in undiagnosed patients with NDD #eshg2025
-Methylation array: DMRs identif
-srWGS: STR identif
-RNAseq: gene silencing
-LR ONT: validation of methylation+expansion

Proteomics using proximity extension assays on the 100kGP cohort increased diagnostic yield (VUS reclassification) for rare disorders and prioritized genes for targeted WGS reanalysis #eshg2025

Elfride de Baere talking about the role of UCNEs in retinal disorders #eshg2025

UCNEs:
-ultraconserved regions in the genome spanning>200bp
-4351 unique UCNEs
-active UCNE located upstream PAX6 gene

What's new with RNU?

First time for ESHG to have a dedicated session for these really cool disorders! #eshg2025

Thank you @eshgyoung.bsky.social for the opportunity to discuss about Romanian young geneticists training programe, challenges and future perspectives at the Get2Gether event! #eshg2025

Totally recommend these straight-out-of-the-oven Nutella pancakes from the GenQA booth! #eshg2025

The #ESHG2025 Conference has officially kicked off! Excited for 4 full days of groundbreaking research in genomics!