Fig. 2: Analytical workflow designed to address the severity of a cohort of patients affected by Congenital Myasthenic Syndromes (CMS). | Nature Communications

Fig. 2: Analytical workflow designed to address the severity of a cohort of patients affected by Congenital Myasthenic Syndromes (CMS).

From: Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Fig. 2

A multi-scale functional analysis approach, based on multilayer networks, was used to identify the functional relationships between genetic alterations obtained from omics data (Whole Genome Sequencing, WGS; RNA-sequencing, RNAseq) with known CMS causal genes. In green, compound heterozygous variants; in yellow, copy number variants (CNVs); in purple, known CMS causal genes. Modules of CMS linked genes are detected using graph community detection at a resolution range (γ) (Methods) where the most prominent changes in community structure occur. Modules that emerged from this analysis were characterized at single individual level.

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