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Reposted

Zornitza Stark @zornitza.bsky.social · 1d

🤗 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

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Reposted

Alex Geary @alextremophile.bsky.social · Aug 29

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...

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 ...

www.medrxiv.org

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Reposted

Nicky Whiffin @nickywhiffin.bsky.social · Aug 18

🚨 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 🧵👇

alexblakes.bsky.social @alexblakes.bsky.social · Aug 18

I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!

tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

www.medrxiv.org

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rociorius.bsky.social @rociorius.bsky.social · Aug 19

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 🧵👇

alexblakes.bsky.social @alexblakes.bsky.social · Aug 18

I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!

tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

www.medrxiv.org

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Reposted

Zornitza Stark @zornitza.bsky.social · May 23

🤗 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!

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...

www.medrxiv.org

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Reposted

thorburnmito.bsky.social @thorburnmito.bsky.social · May 23

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 [email protected] @mcri.bsky.social

David Stroud @dstroudlab.bsky.social · May 23

We're super proud to see our study showing utility of proteomics in ultra-rapid variant prioritisation for suspected mito and other rare diseases out in Genome Medicine (rdcu.be/endwE). Too many amazing collabs to thank, so here are the big ones @daniellahock.bsky.social @thorburnmito.bsky.social!

Cutting the diagnosis journey for children born with rare genetic diseases

Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...

pursuit.unimelb.edu.au

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Reposted

Nicky Whiffin @nickywhiffin.bsky.social · Apr 11

🚨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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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...

www.medrxiv.org

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Reposted

Hope Tanudisastro @htanudisastro.bsky.social · Mar 24

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.

Anna Cuomo @annasecuomo.bsky.social · Mar 24

📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬 www.medrxiv.org/content/10.1...
🧵👇 (1/n)

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