Ruby Dawes
Sydney girl, Fulbright recipient 2020-2021 with Monkol Lek. PhD Kids Research Sydney 2022, now postdoc with @nickywhiffin.bsky.social at BDI Oxford. Splicing & smORFs!
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- Reposted by Ruby Dawes*A new pre-print on increasing gene expression!* 🧬📈 doi.org/10.64898/202...
- hell yes! (another quote for you kartik)
- New paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”
- Love when you can build a paper out of a personal bugbear! tl;dr the precomputed SpliceAI scores are great, but proceed with caution!
- I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores” www.medrxiv.org/content/10.1...
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- Reposted by Ruby Dawes🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️ We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬 See 🧵👇
- I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
- Reposted by Ruby DawesI am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
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- thanks so much for having me jodie!
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- Reposted by Ruby DawesCome and join us @stannescollege.bsky.social on Tuesday 29th April at 17:30 for an evening of talks on the discovery of ReNU syndrome, from the key people involved. Register here for your free place: cpm.ox.ac.uk/event/the-di...
- Reposted by Ruby DawesDo you know a UK-based wheelchair user who works in a lab and would be willing to user-test our prototype of what is believed to be the first-ever lab coat adapted for wheelchair users? Please share far & wide! Interest form: forms.office.com/e/66FhcQjqRT More info: www.ucl.ac.uk/ucl-east/new...
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- Reposted by Ruby DawesA few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
- it was lovely to have you christy!
- I want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!
- The wonderful people I did my PhD with are looking for a bioinformatician to work on the ‘RNA for Rare Disease project’ (RNA4RD), in beautiful Sydney (best city in the world) - if you're in the market I can't recommend this opportunity enough!
- Reposted by Ruby Dawes📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
- lol thanks for exposing me @nickywhiffin.bsky.social ! Also it makes more sense when you see it with my messy desktop 😂
