Vijay Ganesh
@vijayganesh.bsky.social
MD, PhD; Neuromuscular Medicine at Brigham and Women’s Hospital; Rare disease research at Broad Institute
Reposted by Vijay Ganesh
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...)
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting va...
www.medrxiv.org
January 7, 2025 at 9:15 PM
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...)