Today, Alfredo Dueñas Rey will present a systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease at the Genomics England Research Seminar

@VictorLopezSor on cis regulatory elements enhancing non-canonical retinal pigment epithelium ABCA4 isoforms. Really nice data and presentation 👏 #ESHG2023

🚨 New preprint 🚨 medrxiv.org/content/10.110… "Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants" Fantastic team effort co-led with incredible trio Jenny Lord, Hilary Martin and Diana Baralle 🧵1/6

The call is still open! Go check out our interesting computational PhD vacancy 👇👇👇 ugent.be/en/work/scient… Ghent University Research RARE-MED FunGen Lab @ UGent

Published online today. Congratulations to lead authors Jinkuk Kim, Sijae Woo, Claudio de Gusmao, and @zhaoboxun, and all of our collaborators. A brief 🧵: nature.com/articles/s4158…

Our circRNA detection tool benchmarking is now published in Nature Methods 🥳 The main figures and conclusions are explained in this older thread below! nature.com/articles/s4159…

📢 Stijn Van de Sompele wins an AJHG Award for Outstanding Trainee Publication for his #multiomics work disentangling a retinal #enhanceropathy PMID:36243009 ASHG Former debaerelab.com, now cmggent staff UZ Gent UGent Geneeskunde & Gezondheidswetenschappen Congrats Stijn! 👌🏆#proudPI 📢

Check out our new paper on the role of 5’UTR variants in inherited blindness by Alfredo Dueñas Rey et al., now published Genome Medicine genomemedicine.biomedcentral.com/articles/10.11…

We are hiring! Check out the 10 #PhDjobs on progret.eu @Euraxess: lnkd.in/eCNwnv5nProgRET ProgRET is a Marie Skłodowska-Curie Actions Doctoral Network to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases, offering 10 PhD positions in 7 EU countries, 2024-2027 👇

We are hiring! In our group, we are looking for a PhD student to develop a novel therapeutic approach targeting cis-acting, non-coding elements.