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Article

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Journal of translational medicine - 26 May 2025

Luo Xiaomei, Xiao Bing, Liang Lili, Zhang Kaichuang, Xu Ting, Liu Huili, Liu Yi, Yu Yongguo, Fan Yanjie

Abstract excerpt

BACKGROUND: Approximately 60% of rare disease cases remain unsolved after exome and genome sequencing (ES/GS). Blood RNA sequencing (RNA-seq) complements DNA-level diagnosis by revealing the functional impact of variants on gene expression and splicing, but to what extent RNA-driven approaches offer diagnostic benefits across different scenarios-with and without pre-existing candidate variants-remains uncertain....

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Identifiers

PMID: 40420094
DOI: 10.1186/s12967-025-06609-w
PMCID: PMC12105386

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