Article

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

2025-01-03

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 or near that gene. This approach overlooks causal variants with trans-acting effects on splicing transcriptome-wide, such as variants impacting spliceosome function. We present a transcriptomics-first me...

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Literature Corpus work: f73fbd4a-bf5d-54a6-8320-ceeeb643ea59
DOI: 10.1101/2025.01.02.24318941

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