Sonia Garcia-Ruiz
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soniagr.bsky.social
Sonia Garcia-Ruiz
@soniagr.bsky.social
Computer Scientist | Using transcriptomic data to understand RNA splicing changes in human disease | Research Associate at the @RytenLab #UKDRI Cambridge | But also interested in cats, music and astronomy 😄🐈‍⬛📒
Congratulations 🎊 👏 💐 🥳
April 27, 2025 at 7:49 PM
Reposted by Sonia Garcia-Ruiz
🎤 Excited to learn how RNA splicing is linked to Alzheimer’s? @soniagr.bsky.social (UK Dementia Research Institute) will unveil insights from single-nucleus RNA-seq at the Cambridge RNA Club!
Join us for cutting-edge science & stay for networking 🍕on 20th Feb at 17h in @cambiochem.bsky.social
February 13, 2025 at 12:06 PM
Wow, I love it!
January 27, 2025 at 10:42 PM
6) This has been an extensive collaborative team effort! Thanks to @jwbrenton.bsky.social MelissaGrant-Peters ZhongboChen EmilKGustavson ReginaHReynolds @lcolladotor.bsky.social
AineFairbrother-Browne and many more from our lab (RytenLab rytenlab.xn--com)-876aaa40307gka16qcac854l97a7k
January 27, 2025 at 9:59 PM
5) Overall, this in-depth characterisation of splicing accuracy can expand our understanding of the role of inaccuracies in ageing and neurodegenerative disorders.
January 27, 2025 at 9:57 PM
4/ Key findings 🔑 3) We observe a genome-wide increase in splicing inaccuracies in samples affected with Alzheimer’s disease compared to neurologically normal individuals. 🧠
January 27, 2025 at 9:56 PM
3) Key findings 🔑 2) We find that age is positively correlated with a global decline in splicing fidelity, mostly affecting genes implicated in neurodegenerative diseases. 💆‍♂️ #ageing #splicingnoise #splicingaccuracy #neurodegeneration
January 27, 2025 at 9:56 PM
2) Key findings 🔑1) We show that splicing inaccuracies occur at different rates across introns and tissues and are affected by the abundance of core components of the spliceosome assembly and its regulators. #RNAbindingProteins #NMDpathway
January 27, 2025 at 9:55 PM
1) Methods📝 We investigate splicing accuracy using short-read RNA-sequencing data from >14k control samples and 40 human body sites, focusing on split reads that partially map to known transcripts in the reference annotation.
January 27, 2025 at 9:54 PM