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

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

Abstract 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 approach...

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Bibliographic Details
Main Authors: Xiaomei Luo, Bing Xiao, Lili Liang, Kaichuang Zhang, Ting Xu, Huili Liu, Yi Liu, Yongguo Yu, Yanjie Fan
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Journal of Translational Medicine
Subjects:
RNA sequencing
Undiagnosed rare disease
Variant interpretation
Genome sequencing
Clinical practice
Online Access:https://doi.org/10.1186/s12967-025-06609-w
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https://doi.org/10.1186/s12967-025-06609-w

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