Joined July 2011
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Great to see this out now in @CellGenomics . A few points about what we learned in revisions over on BlueSky: bsky.app/profile/gregfindlay…

Our latest from @TheCrick, now on @biorxivpreprint: biorxiv.org/content/10.1101/… Michael Herger (@HergerMichael) and Christina Kajba jointly led development of a new prime editing platform for testing large numbers of human genetic variants.
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Greg Findlay retweeted
Join us for a PhD! Applications close November 5th. crick.ac.uk/careers-study/va…

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Crick PhD recruitment for fall 2025 is officially open! Please apply to our lab through the Crick application portal if interested. 👇 crick.ac.uk/careers-study/va…

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Greg Findlay retweeted
New from our lab @TheCrick , led by @BetkaRoe. A fun side project that tried to understand what happens when a chaperonin encounters a translating ribosome. biorxiv.org/content/10.1101/…
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Greg Findlay retweeted
Come join us in making agriculture sustainable at @PhytoformLabs! 🌱We are looking for an R&D scientist with a background in Synthetic biology to join our tools & traits team for precision genome editing 🧬. If you think this could be you, please apply! linkedin.com/jobs/view/39723…
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Greg Findlay retweeted
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/s41586-0… 🧵 1/16
(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/s41586-0…
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Greg Findlay retweeted
We are delighted to announce that Professor Edith Heard has been appointed as our new director and chief executive! Edith, who is currently director-general at @EMBL, will succeed Paul Nurse in leading the Crick from the summer of 2025. 🔗 crick.ac.uk/news/2024-07-09_…
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Greg Findlay retweeted
Want to fully investigate this large dataset beyond classical 2D formats? Go interactively explore the data 👇 vhl-board.onrender.com/

Replying to @TheGenomeLab
The VHL data can also be searched, visualised, and explored using this awesome SGE visualisation platform made by @ChloeTerwagne: vhl-board.onrender.com/ Chloé’s code is all on GitHub if you’re interested in viewing and sharing your own data like this. (3/n)
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Massive thanks to all authors, but particularly @ChloeTerwagne, Athina Ganner, @LauraCubitt3, @ReidBrewer3, Dong-Kyu Kim & @Eivakine for key inputs to revisions. And, of course, many thanks to reviewers, @nature_genet, and funders @TheCrick @CRUKresearch (7/n)
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Of course, we hope you read the paper and use the data. Do feel free to reach out with questions on anything from protocol tips to variant classifications. (8/n)
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Lots more new analyses and validations in the paper, too. For instance, comparing function scores to SpiceAI and FoldX computational predictions – both of which do reasonably well. (6/n)
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In new experiments, we also characterise novel mechanisms made apparent by SGE. Specifically, we show that a long C-terminus extension leads to LoF via VHL protein destablization and that stop-codon readthrough can impact the degree of functional impairment. See Fig. 6! (5/n)
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The VHL data can also be searched, visualised, and explored using this awesome SGE visualisation platform made by @ChloeTerwagne: vhl-board.onrender.com/ Chloé’s code is all on GitHub if you’re interested in viewing and sharing your own data like this. (3/n)
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Importantly, we now split loss-of-function variants by SGE score into LOF1 (lowest) and LOF2 (depleted, weaker effect). In collaboration w Athina Ganner and Freiburg colleagues, we show how patients with VHL disease can be stratified by ccRCC risk using these categories. (4/n)
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Most importantly, all SGE scores and variant classifications are available for download in Supplementary Table 1 and from MAVEdb (mavedb.org/experiments/urn:m…). Given the data’s high precision, we expect this will lead to a steep reduction in VUS reported clinically. (2/n)
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Greg Findlay retweeted
Our DNA Typewriter protocol (written by @LiaoHanna, @JShendure, and myself) is out! Thank you @NatureProtocols for writing/editing this with us and having it as this week’s #FeaturedProtocol :-)
#FeaturedProtocol this week from Jay Shendure on using #DNATypewriter (#primeediting-based method) for tracing insertional events bit.ly/4cegahU
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Greg Findlay retweeted
Happy to share this opportunity to join our team. Please apply if you are interested, or re-post if you are not on the look out for a new job crick.wd3.myworkdayjobs.com/…

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Greg Findlay retweeted
Excited to see our work on the development of a platform for pooled screening of genetic variants using prime editing published on @biorxivpreprint: doi.org/10.1101/2024.04.01.5….

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