Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Firstly, just to highlight that this is work led by amazing DPhil student Yuyang (@quenchentin) and would not have been possible without the incredible @AnneOtation, many clinical collaborators, patients and their families. Huge thank you to you all!!! 2/9
@nickywhiffin @GenomicsEngland Congrats Nicky and team!