Our team identified a new putative disease-gene using a transcriptome-first approach! 💻🧬
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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