Article

Stratified evaluation of blood RNA sequencing in a rare disease cohort

2026-05-28

Abstract excerpt

<h4>Background</h4> RNA sequencing (RNA-seq) is increasingly recognized as a complementary tool to DNA-based sequencing for improving the diagnostic yield in Mendelian disorders. However, how the diagnostic performance of RNA-seq varies across molecularly and phenotypically distinct patient subgroups remains poorly defined. This study aimed to evaluate and compare the diagnostic utility of RNA-seq across three st...

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Literature Corpus work: 5ba14b1a-7877-5eca-8c79-a1dd790f71aa
DOI: 10.64898/2026.05.27.26353804

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