Thrilled to re-share our tweetorial on Bluesky: now out in @cp-cell.bsky.social (🔗 tinyurl.com/3a55tsky) - we present a framework to accelerate variant classification, diagnosis & treatment of inborn errors of immunity. A dream MD/PhD project, which has already led to the treatment of a patient.

Determining variant effects with pooled prime editing Nature Reviews Genetics - In this Tools of the Trade article, Christina Kajba and Michael Herger describe their screening platform, based on pooled prime editing, for large-scale functional...

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

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

It’s prime time for multiplexed prime editing Prime editing screens allow precise and scalable studies of genetic variants in their native genomic context but are limited by variable editing effic…

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...

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...

Hats off to @joachimdejonghe.bsky.social for overcoming some major hurdles to pull this off. And many, many thanks to @nickywhiffin.bsky.social and co for taking SGE data to new heights. It's been amazing to see how fast things can move once we know precisely which variants matter.

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:

In what is becoming a pretty well-oiled routine, Nicky reached out to see if we had Australian hits, and minutes later @cassimons.bsky.social had found a bunch of them. Now over 20 families diagnosed globally, many with unusual white matter changes - a distinct new recessive syndrome.

Not only is this seriously elegant science from @gregfindlay.bsky.social, @nickywhiffin.bsky.social and friends - using saturation editing to define variant impact in RNU4-2 - it also defines *another* new syndrome associated with this fascinating non-coding RNA gene.