Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis
Ziying Yang, Xiaoru Yang, Yunmei Chen, Zhonghua Wang, Xiangke Fu, Lijie Song, Xunzhe Yang, Zhiyu Peng, Yi Dai
This paper evaluates the clinical and cost-effectiveness of combining whole-genome and RNA sequencing for diagnosing neuromuscular disorders in patients with negative whole-exome results.
medRxiv · Dec 21, 2023 · PreprintGenetic & Genomic Medicine