Remarkable work led by @vijayganesh.bsky.social using a global analysis of RNA splicing in undiagnosed genetic disease patients - yielding new diagnoses, and a new candidate disease gene! Congrats to Vijay, Maggie, and the whole team.
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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