New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases. #snRNAs www.nature.com/articles/s41...

Great talk by Jamie Ellingford about UPD as a cause of rare conditions in the 100k Genomes at the ACGS meeting in Birmingham

Great work published today as preprint on 44k exonerated from the Genes and Health study www.medrxiv.org/content/10.1...

Welcome to the ESHG 2025 – #hybridconference! Join the conversation by using #eshg2025. With this hashtag you will also find the latest updates. See you at 8:30 CEST for the first sessions of today!