Greg Findlay @TheGenomeLab

Group Leader of the Genome Function Laboratory @TheCrick From 2025, find me over on the other side: https://t.co/ajOqpCvaUY (he/him) crick.ac.uk/research/labs/… London Joined July 2011

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Greg Findlay @TheGenomeLab

2 years ago

@AkramulSourav Dear Akramul, Yes - Crick PhD positions are open to international students! Out of fairness, I don't discuss project opportunities with individual applicants until shortlisting, but please apply using the link above if interested. Best, Greg

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Greg Findlay @TheGenomeLab

2 years ago

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/…

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David Balchin @balchin_david

2 years ago

Join us for a PhD! Applications close November 5th. crick.ac.uk/careers-study/…

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David Balchin @balchin_david

2 years ago

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/10.110…

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Colleen Drapek @ColleenDrapek

2 years ago

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/3972…

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Nicky Whiffin @nickywhiffin

2 years ago

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/s4158… 🧵 1/16

Yuyang Chen @quenchentin

2 years ago

(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/s4158…

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The Francis Crick Institute @TheCrick

2 years ago

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/2024-07-0…

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Chloé Terwagne @ChloeTerwagne

2 years ago

Want to fully investigate this large dataset beyond classical 2D formats? Go interactively explore the data 👇 vhl-board.onrender.com

Greg Findlay @TheGenomeLab

2 years ago

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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Greg Findlay @TheGenomeLab

2 years ago

@JohnDoench @megan_buckley01 @NatureGenet Yes, the van ride! So critical... ;) Thanks, John!

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Greg Findlay @TheGenomeLab

2 years ago

Our work led by @megan_buckley01 on Saturation Genome Editing of VHL is now out in @NatureGenet: nature.com/articles/s4158… Many new experiments and analyses to quickly highlight… (1/n)

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Greg Findlay @TheGenomeLab

2 years ago

@SaraGutierrezEn @megan_buckley01 @NatureGenet Thanks, Sara!

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Greg Findlay @TheGenomeLab

2 years ago

Finally, we’re delighted to see this published back-to-back with a massive SGE analysis of BAP1 led by Andrew Waters, @David_J_Adams and co. @sangerinstitute: nature.com/articles/s4158… So many more variants now readily interpretable, and still more on the way! (9/9)

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Greg Findlay @TheGenomeLab

2 years ago

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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Greg Findlay @TheGenomeLab

2 years ago

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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Greg Findlay @TheGenomeLab

2 years ago

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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Greg Findlay @TheGenomeLab

2 years ago

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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Greg Findlay @TheGenomeLab

2 years ago

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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Greg Findlay @TheGenomeLab

2 years ago

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Greg Findlay @TheGenomeLab

2 years ago

Most importantly, all SGE scores and variant classifications are available for download in Supplementary Table 1 and from MAVEdb (mavedb.org/experiments/ur…). Given the data’s high precision, we expect this will lead to a steep reduction in VUS reported clinically. (2/n)