🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️ We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬 See 🧵👇

Just over a week until our postdoc recruitment closes. If you want to use big datasets and computational methods to understand how the genome works and how that goes wrong in disease, apply! www.jobs.ac.uk/job/DNR261/r...

We're hiring! We're looking for a computational postdoc to join an exciting new project looking for splicing and non-coding regulatory elements using large 'omics datasets, and investigating how their disruption might lead to common and rare disease www.jobs.ac.uk/job/DNR261/r...

I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!! link.springer.com/article/10.1... Key points (A 🧵):

📢 We're making our largest ever investment in early-career researchers Through #Springboard25, we’re investing £7.6m in 62 researchers to drive innovations that improve health and wellbeing 🔬 Congrats to all 2025 awardees! 🎉 👉 bit.ly/springboard2... @thebhf.bsky.social @wellcometrust.bsky.social

Thrilled to have been awarded one of the @acmedsci.bsky.social #Springboard25 awards to support my work using big datasets to investigate splicing and gene regulatory elements and how variants in them cause disease. I will be recruiting a postdoc soon!

Fully funded PhD studentship at Sheffield Uni - investigating novel causes of rare disease using bioinformatics and big data sets! Application deadline 28th March. @sheffielduni.bsky.social @fohsheffield.bsky.social @scypherofficial.bsky.social www.findaphd.com/phds/project...

New paper out in EJHG making new diagnoses and identifying candidate disease genes in individuals with congenital heart disease t.co/9A4IFSABzU - fab collaboration to be a part of - led by Verity Hartill using data from the 100,000 Genomes Project

Snow!

I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged. #ClinicalInformatics #genomics #bioinformatics 🖥️🧬

My app for finding 🦋 accounts you may want to follow has had a make-over: it now displays names and bios, and allows adding an "app password" for direct follow buttons in the listing bsky-follow-finder.theo.io