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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

19 Sept 2025

Abstract excerpt

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 variants within the gene locus. This approach overlooks causal variants with trans-acting effects on splicing transcriptome wide, such as variants impacting spliceosome function. We present a transcriptomics-first...

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PMID: 40975062
DOI: 10.1016/j.ajhg.2025.08.018

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