I absolutely love this figure in a second paper led by Adam Jackson, @alexblakes.bsky.social, and Sid Banka (www.medrxiv.org/content/10.1...) of RNU gene diagnoses in @genomicsengland.bsky.social 100k genomes project.

(1) showing just how many new diagnoses are found across these genes ❤️

2/3

The biology here is fascinating too. Really nice to see the clustering of compound het / homozygous variants in the Sm site in your cohort for example.

(2) but even cooler is the flip of frequency between dominant and recessive forms in RNU4-2 and RNU2-2, driven by different signatures of mutation and selection - variants across RNU2-2 tend to be more common, driving a higher comp het frequency.

We have a lot to learn from these genes yet!!! 🧬🤓

3/3 I am thrilled to be part of a study establishing the clinical phenotypes of NDD associated with recessive variants in RNU4-2. Thank you to @rociorius.bsky.social, @alexblakes.bsky.social, @cassimons.bsky.social and @nickywhiffin.bsky.social for leading this work! More details: lnkd.in/eTJ5Rapt

I learned so much from this work and I hope that and discoveries like this can make a real difference to the lives of people living with #RareConditions. Please do share! 😊
www.medrxiv.org/content/10.1...

Thanks also to the institutions whose incredible resources and platforms have made this work possible, including @ukbiobank.bsky.social, @genomicsengland.bsky.social, @manchester.ac.uk, @ox.ac.uk, as well as our funders including @wellcometrust.bsky.social.