We each carry around six million variations in our DNA. Henry Scowcroft explores how scientists like @gregfindlay.bsky.social and @carovinuesa.bsky.social are helping unravel the effects of these variants, where even a small change can have a big impact on our lives. www.crick.ac.uk/news/2025-10...

Just a few weeks left to apply for our clinical PhD programme. We're looking for clinicians who are passionate about research to join the 3-year fully funded programme. Learn more and see what positions are available ⬇️ www.crick.ac.uk/careers-and-...

Planning your afternoon poster session at #ashg25? Come say hello! This is an amalgamation of our two recent preprints - working with @gregfindlay.bsky.social , @cassimons.bsky.social , @dgmacarthur.bsky.social and many others to study variation across RNU4-2 and describe a new recessive NDD 🧬

Excited to be presenting our work on "Saturation mutagenesis of 37 human splicing factor genes using pooled prime editing" later today at #ASHG2025 during the Platform Session "RNA Functions Beyond Coding Sequences" (1:30-2:30PM, Room 205ABC).

Hello Boston! The lab is delighted to be at #ASHG25🧬 Check out our talks over the next few days - all unpublished stories. Kicking things off is @michaelherger.bsky.social presenting "Saturation mutagenesis of 37 human splicing factor genes with pooled prime editing". Today @2pm, Rm205abc Also 👇

We're recruiting early career Group Leaders this autumn! I cannot think of a better place to build a lab. Come join us! 👇

🚨 Applications to the Crick PhD programme are now open! We are pleased to be recruiting this year. 👇 www.crick.ac.uk/careers-stud...

We're looking for clinicians who are passionate about research to join our 3-year fully funded clinical PhD programme. 🔬🩺 Apply by 14 November 2025. 👇 www.crick.ac.uk/careers-stud...

We now have an open post-doc position in the lab: crick.wd3.myworkdayjobs.com/External/job... Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.

Hugely thankful for this 🙏. We will do our best to make the most of it. @erc.europa.eu!

We recently performed SGE of RNU4-2 and identified functionally impactful variants underlying a new recessive disease. Today, the team led by @rociorius.bsky.social @alexblakes.bsky.social @cassimons.bsky.social & @nickywhiffin.bsky.social provide in-depth analysis of its clinical presentation. 🧵⬇️

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

Our latest research is out today on ‪@medrxivpreprint.bsky.social: www.medrxiv.org/content/10.1... Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk. Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n

Check out @ckajba.bsky.social and Michael Herger's concise description of their recent work. Thanks to Nature Reviews Genetics for featuring this. rdcu.be/eraxZ

🚨In this issue🚨 A trio of papers provide key insights for integrating functional data into clinical variant interpretation #MAVE #VUS @dougfowler.bsky.social @clareturnbull.bsky.social @leastarita.bsky.social @gregfindlay.bsky.social @afrubin.bsky.social

Big congratulations to our very own Christina Kajba for winning a presentation award at #ESHG25. You can read all about her work here: www.cell.com/cell-genomic...

Join the Hallegger Lab in Oxford! A post-doc position available to develop neuronal cell models to characterise how TDP-43 aggregation leads to its dysfunction in MND. Highly collaborative project funded by My Name'5 Doddie Foundation @MNDoddie5 Please repost and share widely!

We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)

Chloe Terwagne at #VariantEffect25

Many thanks to Ke Wu and Francisco Sánchez-Rivera (@fsrmit.bsky.social) for nicely summarising our recent work in Cell Genomics. www.sciencedirect.com/science/arti...

🚨 Fully-funded 4-yr MRes+PhD studentship @Imperial 🚨 Join our team (w/ Prof Hugh Brady @Imperial + Dr Jacob Bush @GSK) on an exciting PhD project developing a covalent cyclic peptide discovery platform with a focus on immuno-oncology targets 🔬🔥 📅 Deadline: 27 April 2025

We're quite excited about this story as it showcases the power of SGE to dissect non-coding genes and to uncover new disease associations and diagnoses. This has, indeed, been an excellent collaboration...

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

Close all tabs and read this. Start with the preceding Nature paper. Trust me. This is cooler than liquid helium.

So thrilled to see our pre-print online. This was an incredible team effort and I am so proud to have been part of this amazing study, special thanks goes to @nickywhiffin.bsky.social and @gregfindlay.bsky.social for their mentorship. Go check-out Nicky's thread hereunder:

We're hiring again! Now looking for a postdoctoral fellow to join us on our mission to improve methods for testing human variants at scale. 🔎🧬🧪 Many potential projects to tackle, all in the top-tier research environment of the @crick.ac.uk. crick.wd3.myworkdayjobs.com/External/job...

It's getting late on Friday, so you know what that means: HHS has just updated its list of cancelled grants and programs. The document went from 14 pages long to 42 pages. Just an incalculable list of cancelled COVID-19 funding. taggs.hhs.gov/Content/Data...

Excited to share our @varianteffect.bsky.social CVI workstream preprint! Herein, we discuss important considerations for integration of multiplex functional data to generate a single score set and how this is likely to impact variant classification now and in the future arxiv.org/abs/2503.18810

Postdoc position #1 is live! Please apply / spread the word! lms.mrc.ac.uk/work/vacanci...

Delighted our work on the development of a prime editing screening platform in HAP1 is now published in Cell Genomics. This was led by Christina Kajba and Michael Herger, who did very well to optimise all aspects. (Preprint thread: x.com/TheGenomeLab...) www.cell.com/cell-genomic...

📣 We are advertising for a postdoc to join our team at the University of Edinburgh! Our lab studies gene regulatory mechanisms in development, and how genetic changes may impact these processes to alter development and shape human craniofacial form and function 🧬🧪

Huge congratulations to Magdalena Armas @magdaarmas.bsky.social (PhD Student @crick.ac.uk) for winning the Silver Award at the STEM for Britain competition!

We're recruiting a senior scientist. Great opportunity for somebody interested in building a career in the wonderfully supportive research environment that is the Crick. 🧪 crick.wd3.myworkdayjobs.com/External/job...

Excited to be attending the 2025 Mutational Scanning Symposium in Barcelona with members of the lab. Still over a week left to submit an abstract: events.ibecbarcelona.eu/mutational-s...

PhD applicants of Black or mixed Black heritage are encouraged to apply to our lab via the Crick's inaugural recruitment for Future Leaders in Biomedical Sciences Scholarships. www.crick.ac.uk/careers-and-...

Our spring round of PhD recruitment is now open! We’re looking for researchers of any nationality with backgrounds in biological or biomedical sciences, physics, chemistry, maths or computer science. Find out more and apply by midday, 19 March: www.crick.ac.uk/careers-stud...

Applicants of Black or mixed Black heritage can apply to my lab through the new Future Leaders in Biomedical Sciences programme. www.crick.ac.uk/careers-and-...