Clinical validation of RNA sequencing for Mendelian disorder diagnostics
Sen Zhao, Kristina Macakova, Jefferson C. Sinson, Hongzheng Dai, Jill Anne Rosenfeld, Gladys E. Zapata, Shenglan Li, Patricia A. Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Diseases Network, Brendan Lee, Christine Eng, Pengfei Liu
This study validates a clinical RNA-seq test for diagnosing Mendelian disorders using 150 samples, achieving over 99% sensitivity and specificity.
The American Journal of Human Genetics · Mar 4, 2025Peer-reviewedGenetic & Genomic Medicine