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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

At #ASHG24 #ASHG2024 and interested in non-coding variants in rare disease? I am speaking in the session "How do we describe and ascribe clinical significance to the non-coding genome?" bright and early tomorrow morning 🧬

My group's work dissecting the contribution of common variants to rare neurodevelopmental conditions is now out at nature.com/articles/s4158…. See this thread from co-first authors Qinqin Huang and Emilie Wigdor with a summary of the key findings.

Great to see this paper out in Nature today! One aspect that I worked on was the curious result that the education polygenic score predicts neurodevelopmental conditions but this prediction disappears within family. It's possible that this is because the parents' genetics

Excited to share our latest research, now published in nature 🎉 Huge thanks to my amazing supervisor Hilary Martin and co-first Emilie Wigdor for their incredible support!

Large-scale genetic analysis has uncovered new insights into how common DNA differences play a role in the development of rare brain conditions. In the future, the findings may help families and doctors better understand and manage these conditions. sanger.ac.uk/news_item/new-…

This paper is essential reading with important implications for the clinical genetics community and with important messages for ADHD and -- possibly --- bipolar disorder & anorexia nervosa. My commentary piece accompanies the article and is available at rdcu.be/d0VlK

🚀 New Paper Alert! 🚀 𝐑𝟐𝐃𝐓: a comprehensive platform for visualising RNA secondary structure Check it out in Nucleic Acids Res: academic.oup.com/nar/article/53… Here’s why you should give it a try 🧵👇

The cells in our bodies constantly acquire mutations. But what are the patterns of mutations across tissues? How do mutations in normal cells lead to disease? These and other questions we will tackle within the SMaHT Network, now described in nature nature.com/articles/s4158…