Genetic & Genomic MedicinemedRxivPreprint
Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis
Ziying Yang, Xiaoru Yang, Yunmei Chen…·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.
DOI 10.1101/2023.12.21.23300182