alexandra geary

1.4K posts

alexandra geary

alexandra geary

@Alextremophile

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

Manchester Katılım Mayıs 2009
665 Takip Edilen460 Takipçiler
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Fiona J. Whelan
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 jobs.manchester.ac.uk/Job/JobDetail?…
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Chris Kershaw
Chris Kershaw@Little_Kersh·
Excellent talk by @nickywhiffin (as always) and interesting to hear about all the amazing non coding work done by @Alextremophile. Glad I didn’t chase RBP binding variants as a potential project!!
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Nicky Whiffin
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 nature.com/articles/s4158… 🧵 1/16
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: nature.com/articles/s4158…

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Nicky Whiffin
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
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alexandra geary
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: nature.com/articles/s4158…

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alexandra geary
alexandra geary@Alextremophile·
Next up - @DrJennyLord really driving home the importance of expanding to incorporate more varied data than protein coding alone. #GERS24
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alexandra geary
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 ⭐️
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alexandra geary
alexandra geary@Alextremophile·
@DrABlakes talking about regional nonsense constraint quantification - super engaging and important work!
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alexandra geary
alexandra geary@Alextremophile·
And now the awesome @RuebenaEDawes presenting our work looking into ways to rescue diagnoses using updated SpliceAI scores #GERS24
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Ruby Dawes
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 ! 🧬
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alexandra geary
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.
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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 🎉🍾🎊

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Keşfet

@Mata_Lab @Little_Kersh @nickywhiffin @OxPaediatrics @swynn_unique @quenchentin @CSOSue @Nature