🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬

👉 www.nature.com/articles/s41...

1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability

09.10.2025 20:03 — 👍 22    🔁 14    💬 0    📌 4

Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...

I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...

29.08.2025 08:57 — 👍 14    🔁 5    💬 1    📌 4

🚨 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 🧵👇

18.08.2025 11:46 — 👍 26    🔁 8    💬 0    📌 0

Nuevo diagnóstico ligado a #RNU4-2 🧬: variantes bialélicas causan un #TND recesivo con cambios característicos en sustancia blanca en RM 👉 hay que considerar este gen no codificante en la búsqueda/diagnóstico.
tinyurl.com/3j9r56s8
La historia completa la cuenta @alexblakes.bsky.social aqui 🧵👇

19.08.2025 08:09 — 👍 3    🔁 1    💬 0    📌 0

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necess...

🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬

github.com/populationge...

A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!

23.05.2025 06:04 — 👍 24    🔁 13    💬 1    📌 5

Fantastic to see this work published and the bioinformatic tools and criteria freely available to do the equivalent of 8000 western blots at once to boost diagnostic yield in over half the known rare disease genes, with results in under 3 days when needed!@ausgenomics.bsky.social @mcri.bsky.social

23.05.2025 01:19 — 👍 1    🔁 1    💬 0    📌 0

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...

🚨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
🧬🖥️🩺

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11.04.2025 09:59 — 👍 98    🔁 48    💬 4    📌 6

The TenK10K Phase 1 dataset is out! A mammoth effort to generate and analyze paired WGS + scRNA-seq at scale - already yielding exciting insights, with many more to come.

24.03.2025 08:23 — 👍 7    🔁 3    💬 0    📌 0