Article

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

2023-12-21

Abstract excerpt

<h4>Background</h4> A considerable number of patients suffering from neuromuscular disorders (NMD) are unable to receive an accurate diagnosis through initial genetic testing. It is imperative to develop a cost-effective diagnostic strategy that incorporates appropriate multi-omics techniques. <h4>Methods</h4> This study included 33 NMD patients with negative results from whole-exome sequencing (WES). Whole-genome...

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Literature Corpus work: 1f51b1ad-74b9-5757-87c4-05fc31b67ef5
DOI: 10.1101/2023.12.21.23300182

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