*A new pre-print on increasing gene expression!* 🧬📈
doi.org/10.64898/202...
10.12.2025 11:11
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*A new pre-print on increasing gene expression!* 🧬📈
doi.org/10.64898/202...
What do we mean by "actionability" in genomic medicine? An important question as we think more about using genomes for screening as well as diagnosis... read our new paper @gimjournal.bsky.social, authors.elsevier.com/a/1mBYc3vlFV...
I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:
Image of an old building in Oxford with the heading 'postdoc opportunities' and the text 'computational approaches to improve rare disease diagnosis and treatment' and 'Big Data Institute, University of Oxford'
📣 We are recruiting! Please share!!
Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺
We have two roles available 👇
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New preprint! We solve a mystery you didn't know existed. Mitotic cells lack new transcription but require ongoing translation. Interphase mRNA half life is only 2-4 hrs. So how do cells arrest in mitosis for hours without depleting their transcriptomes?
www.biorxiv.org/content/10.1...
Deadline extended to August 1st!
Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!
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Huge thanks to Nicky for guiding this work, and to the co-authors, this wouldn't be a paper without you 🥰 @nickywhiffin.bsky.social @elstondsouza.com @ruebenadawes.bsky.social @alextremophile.bsky.social and Alex Chan
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The big takeaway?
UTRs are not silent. They’re critical regulatory regions—and can contain pathogenic variants just like protein coding exons do.
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Why are UTR variants often missed?
👉 They’re rarely prioritised in clinical genomics
👉 Annotation tools are limited
👉 Functional consequences are hard to predict
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The review outlines how UTR variants cause disease, such as:
- Create or remove upstream AUGs (uAUGs)
- Alter splicing
- Alter polyadenylation
- Interfere with miRNA or protein binding
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UTRs regulate mRNA stability, translation, and localisation. A single UTR variant can derail protein production without touching protein coding sequence!
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Most Mendelian disease diagnostics focus on coding regions - yet 5′ and 3′ UTRs contain important, overlooked variants.
Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease!
www.nature.com/articles/s41...
Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford.
More info here: bit.ly/biomedDPhil
🗓️ App deadline: June 30th 2025.
Please share!
thank you!
incredibly interesting. do you know if there is more information on the genetic parents and whether their wishes were taken into account I.e. were they told they had to take the child or they were very much wanting to take it - and how much of a difference did their preferences make in this decision
Delighted to see my phenomenal phd supervisor get recognition for the all round fab scientist and super powerhouse she is! Go Nicky 🤩🥰
As a recent graduate of a DPhil in Oxford could not recommend it more highly! Check these out and apply 😊