RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders

Conclusion
RNA splicing analysis is an important method to assess the impact of sequence variants on splicing in clinical practice and can contribute to the reclassification of a significant proportion of VUSs. RNA splicing analysis should be considered for genetic disease diagnostics.

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: He, W.-B., Xiao, W.-J., Dai, C.-L., Wang, Y.-R., Li, X.-R., Gong, F., Meng, L.-L., Tan, C., Zeng, S.-C., Lu, G.-X., Lin, G., Tan, Y.-Q., Hu, H., Du, J. Tags: Diagnostics Source Type: research