.png){kind=icon}
.png){kind=icon}
Return
Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics
.png){kind=icon}
OA
AI
D
W
M
C
J
A
B
DOI：10.1016/j.gim.2026.102644.png)
.png){kind=icon}
Original request for help.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
While exome and/or genome sequencing (ES/GS) are highly effective in identifying pathogenic variants, they may not capture the functional consequences of variants. RNA sequencing (RNA-seq), when used alongside ES/GS, addresses this limitation.
Keywords:
Meta-analysis
Systematic Review
Exome and Genome Sequencing
RNA Sequencing
Diagnostic Utility
Journal
IF:
6.2
Papers:
5.1K
Citations:
2.0W
Organization
Cited Papers