Congrats Zam!! 🎉

Congratulations @hilarycmartin.bsky.social !!! So very well deserved! 🤩🌟👏

SO awesome! Congrats James and team!!

I'm sorry, but I'm not going to make your talk tomorrow 😞 I am around Tuesday morning though if you have any gaps.

I hope you finally made it Sharon!

She was fab! Sorry I couldn't stay for some 🍾

Not sure about long reads, but definitely higher depth and in more relevant cell types than the clinically accessible tissues we have so far. Hopefully there will be a useful biomarker too 🤞 Analysis tools more geared towards these subtle signatures would be helpful too!

@ewanbirney.bsky.social and @jeffbarrett.eu might be interested in this one. RNU2-2 (191 nts) is slightly longer than RNU4-2 (145 nts), but still pulling a lot of weight for diagnoses per base-pair 🤓

(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!!! 🧬🤓

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