alexandra geary

@[email protected] Bioinformatician CRDG lab (@nickywhiffin) human genetic disease and evolution. (she/her)

[Fiona J. Whelan @whelanfj]

🚨 The Whelan lab is hiring! 🚨 We are looking for a PDRA to join our lab at U of Manchester. We & collab @Mata_Lab are seeking someone interested in interdisciplinary techniques to est a hydrogel biofilm model to study microbe-pathogen interactions
https://t.co/IZ88hOuBx8

[Fiona J. Whelan @whelanfj]

A reminder that this job opening is open for 1 more week! Come join us!

[alexandra geary @Alextremophile]

@Little_Kersh @nickywhiffin Absolutely!

[Nicky Whiffin @nickywhiffin]

Write up by the fantastic Laura Borg @OxPaediatrics featuring @swynn_unique, @quenchentin, Stephan Sanders, Suzi Walker, @CSOSue, and Jessica and Nicole, two wonderful RNU4-2 mums. Lovely pic of Nicole with 10-year-old Mia Joy ❤️ https://t.co/3nM2jexjVr

[Nicky Whiffin @nickywhiffin]

Frustratingly, the accelerated article preview is not open access 😔 but the full PDF can be accessed for free here https://t.co/Aba0va2ai9

[Nicky Whiffin @nickywhiffin]

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature https://t.co/FeDLGm14MB
🧵 1/16

[Nicky Whiffin @nickywhiffin]

Firstly, a huge thank you to all the patients and their families who so generously engage in research. We are in an incredible place in genomics, where we can replicate a finding across many global datasets with ease. This would be possible without this generosity. 3/16

[Ruby Dawes @RuebenaEDawes]

So happy to see this out, this was a truly special journey to be a part of! Seeing such a big team effort come together in real time was incredible ⭐️

[alexandra geary @Alextremophile]

I had the enormous privilege of seeing @quenchentin and @nickywhiffin 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

[Yuyang Chen @quenchentin]

(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: https://t.co/zohcc2fGGT

[alexandra geary @Alextremophile]

Next up - @DrJennyLord really driving home the importance of expanding to incorporate more varied data than protein coding alone. #GERS24

[alexandra geary @Alextremophile]

Photo was super blurry, but a great talk from @amarcobio in prostate cancer risk, and how imperative it is to consider diverse populations ⭐️

[alexandra geary @Alextremophile]

#GERS24

[alexandra geary @Alextremophile]

@DrABlakes talking about regional nonsense constraint quantification - super engaging and important work!

[alexandra geary @Alextremophile]

One of the highlights of my day so far - @vivienneparry declaring @quenchentin a “man to watch” ♥️

[alexandra geary @Alextremophile]

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

[Ruby Dawes @RuebenaEDawes]

For anyone at #GERS2024 in London today, I’m speaking at the Emerging Technologies stage at 11.35 on some SpliceAI reanalysis I’ve been working on with @Alextremophile ! 🧬

[alexandra geary @Alextremophile]

I’m super privileged to be watching @quenchentin 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.

[alexandra geary @Alextremophile]

Another fantastic and super well deserved award!

@ceclindgren is an absolute beacon of support and kindness and a superb science inspiration and I am so glad for her!

[Andrea ganna @andganna]

@ceclindgren won the ESHG award lecture. Congratulations 🎉🍾🎊

[alexandra geary @Alextremophile]

Absolutely awesome news!
@quenchentin absolutely nailed it under particularly stressful circumstances!

If you’ve not read it yet, his preprint is here: https://t.co/gFGvYZ3aic

A really excellent bit of work from an all round boss human! ♥️

[Yuyang Chen @quenchentin]

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!