So excited to read this preprint after Maggie's amazing plenary at ASHG. Congrats @maggie-arriaga.bsky.social and team 🥳
A transcriptome first approach identifies pathogenic variants in RNU4ATAC and highlights the RNU6ATAC as a putative new disease gene 🧬🖥️
A 💪 day for snRNA preprints!!
A transcriptome first approach identifies pathogenic variants in RNU4ATAC and highlights the RNU6ATAC as a putative new disease gene 🧬🖥️
A 💪 day for snRNA preprints!!
Reposted from
Maggie Maurer Arriaga
What if one variant can cause splicing outliers transcriptome-wide? In our preprint, we show how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover novel disease-gene relationships! (www.medrxiv.org/content/10.1...)
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