Associate Professor @ Big Data Institute, University of Oxford
2024 Lister Institute Fellow
genomics | rare disease | gene regulation | genetic therapies
https://rarediseasegenomics.org/
(field) hockey player | cyclist | hiker
Nicky Whiffin
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The Academy of Medical Sciences has elected five Oxford University biomedical and health scientists to its fellowship in 2026.
Congratulations to professors:
- Tao Dong
- Oliver Pybus
- Julian Savulescu
- Christian Siebold
- Nicola Whiffin
Find out more ⬇️
https://bit.ly/4dF0fvc
📣 New preprint 🧵: we profiled post-mortem human BA22 (speech cortex) in autism across 100 donors using single-nucleus multiomics (~500,000 nuclei), integrating RNA + chromatin accessibility. Shout-out to my co-first authors Varun Suresh and Yuhan Hao: www.biorxiv.org/content/10.6...
www.biorxiv.org
University of Oxford
Emilie Wigdor
🚨 New preprint led by super⭐ PhD student Anthony (@amcguigan.bsky.social) 🥳
He studied homozygous deletions genome-wide using genome sequencing data in the amazing @genomicsengland.bsky.social NGRL
See Anthony's 🧵for a summary 👇
I wrote a new blog post: www.whiffinlab.org/blog/rnuopat...
Trying to put the past two years of research into snRNA genes and RNUopathies into broader context (even from within the field it is hard to keep up!), with a personal tilt 💙🧬
@renusyndrome.bsky.social #renuSyndrome #rnuopathies
Nicky Whiffin
Nicky Whiffin
I’m delighted to share our work leveraging homozygous deletions to discover rare disease diagnoses and novel disease genes - see the preprint here: www.medrxiv.org/content/10.6...
amcguigan.bsky.social
www.medrxiv.org
Structural variants (SVs) can disrupt gene function and contribute to pathogenesis of rare disorders. Here, we created a genome-wide knockout dataset across 125,730 individuals with genome sequencing ...
In the last two years my science world has been turned completely upside down. The starting point: a discovery in early 2024 of a highly prevalent yet previously unrecognised neurodevelopmental disord...
