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If you are attending #ESHG2024 come and talk to us at 20.063.D in the poster area about our initiative to annotate non-canonical ORFs Ensembl #bioinformatics #genomics #berlin

Extremely happy to receive the Early Career Award on ESHG 2024 on our work on RNU4-2. A huge thank you to everyone involved for your contributions!

She's the greatest!

Thesis submitted! A gorgeous afternoon in Port Meadow to celebrate 🎉

(1/4) I’m delighted to announce that our research on RNU4-2 is now out on nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s4158…

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

Inarguably the most important human genetics paper of the year, and a landmark moment in the history of neurodevelopmental disorder (NDD) genetics. Mutations in RNU4-2, encoding a small nuclear RNA (snRNA) are among the most frequent genetic causes of NDD, explaining up to 0.4%

I am delighted to share our work on regional nonsense constraint in human protein coding genes! Now on @medRxiv: medrxiv.org/content/10.110… A quick 🧵 on what we found!

I want to try something new at #ASHG24 this year: I'm going to block some time on Friday afternoon to meet with any trainees who would be interested to chat on any topic.

Meet the team!! Four of our wonderful team will be presenting in this afternoon's poster session. Please go say hello and chat to them about their work. I may be biased, but they are all awesome! Eloise Wells Elston D'Souza Ruby Dawes Hyung Chul Kim #ASHG24 #ASHG2024