Fig. 1: The workflow. | Communications Biology

Fig. 1: The workflow.

From: Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

Fig. 1

Human skeletal muscle bulk-RNA-seq data from three sources (GTEx database, GEO database, and Helsinki) were integrated into a combined dataset (1221 muscles × 9231 genes). A spectrum order can be observed in this integrated dataset: Healthy→Mild disease→Moderate muscle wasting →Severe muscle disease. Different clinical features were mapped to the transcriptional data to validate this spectrum order. Tissue deconvolution was performed using skeletal muscle single-cell datasets as references, allowing us to infer the cell type composition in myopathy muscles. By utilizing genuinely healthy muscles from the GTEx database as controls, we conducted differential expression analyses on general myopathy and six distinct myopathies to explore shared and unique featured genes and pathways among them. Finally, these newly identified featured genes were validated in the Helsinki muscle samples using qPCR.

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