RP @maggie-arriaga.bsky.social: 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 uncove…
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. https://bsky.app/p…
RP @maggie-arriaga.bsky.social: 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 uncove…
RP @maggie-arriaga.bsky.social: 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 uncove…