🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Had a fab time at WellcomeHQ last week. There were ~70 first year PhDs from ~20 programs. It was great to meet other students working in biotech and health 🧬

After a brilliant launch last year, we are delighted that our Art Competition is back! 🎨🖌️ This year's theme is: screening newborn babies for disease. We are now open for entries! Full details on how to enter can be found here: cpm.well.ox.ac.uk/art-competition

I am breaking a long twitter hiatus with some exciting news: 🚨A new preprint!🚨 medrxiv.org/content/10.110… I am super excited to be sharing this, and hope you enjoy reading it! Key points (A 🧵):

Very happy and honored to present our work from my postdoc project in @DaanNoordermeer lab I2BC Paris-Saclay on CTCF clustering at TAD boundaries and the novel multi-contact 3C assay: Nano-C – now published Nature Communications. nature.com/articles/s4146…. A nice 🧵 written by Daan 👇

How does Google DeepMind 's #AI approach to predicting missense pathogenicity compare to previous prediction algorithms? We did a deep dive into the functional data for 17,696 missense variants across 5 genes to compare #AlphaMissense with other predictors of missense severity:

The Sanders Lab (joint Oxford_IDRM and UC San Francisco ) is looking for a Data Manager! We have lots of cool data and projects, a lovely new building, a wonderful team (if I do say so myself 💅) and supervisor, and a gorgeous city. Please share!

Delighted that this work is now published Genome Biology and available at link.springer.com/article/10.118…

A mad dash between sessions for me but I could not be more proud of two PhD students Eloise Wells and Yuyang Chen who both completely smashed their first ever conference presentations #proudPI ❤️🧬

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!

I’m super privileged to be watching Yuyang Chen presenting his work on RNU4-2 at #GERS24. It is an honour to have been a part of this work, and to see the impact it has had on participants is humbling.

And now the awesome Ruby Dawes presenting our work looking into ways to rescue diagnoses using updated SpliceAI scores #GERS24

Scientists uncover genetic disorder that may affect thousands around world dlvr.it/T9SXM3

(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…

I had the enormous privilege of seeing Yuyang Chen and Nicky Whiffin push really hard to get this work to as many families as possible, and have been honoured to contribute to this fantastic finding, released today in nature

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

Write up by the fantastic Laura Borg Department of Paediatrics featuring Sarah Wynn, Yuyang Chen, Stephan Sanders, Suzi Walker, Professor Dame Sue Hill, and Jessica and Nicole, two wonderful RNU4-2 mums. Lovely pic of Nicole with 10-year-old Mia Joy ❤️ paediatrics.ox.ac.uk/news/new-disco…

"feeling that like we’ve been on this deserted island for eight years and now all of a sudden, you’re sort of like looking around through the branches of the trees. It’s like, wait a minute, there are other people on this island" ❤️

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!

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

Had a great time at the ASHG Conference! It was great to connect with so many brilliant people in genomics. Excited to turn ideas into results in the year ahead. #ASHG24