Journal: Biomedicines

Article Title: Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature

doi: 10.3390/biomedicines13123043

Figure Lengend Snippet: Proposed pipeline for episignature detection. Two main paths exist depending on whether other methylation profiles are available for comparison. If not, an external facility is required. If so, the user can either develop their own episignature or test any open-access model, searching for the disease of interest by consulting the studies summarized in this review. In the principal component analysis (PCA) and hierarchical clustering colors indicate case (orange) and control (green/blue) samples. Icons downloaded from BioRender.org. There is no copyright issue.

Article Snippet: , Qlucore , Web-based , Methylation analysis. , .

Techniques: Methylation, Comparison, Control

Journal: Biomedicines

Article Title: Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature

doi: 10.3390/biomedicines13123043

Figure Lengend Snippet: Full episignature detection pipeline using methylation arrays. Continuous dark green lines and boxes indicate steps conducted in most studies or considered key. Dotted light-green lines and boxes indicate processes that sometimes are not conducted, but were considered important to keep in mind. In the PCA, hierarchical clustering, epimutation plot, and discovery/validation plot, colors indicate cases (orange) and controls (green/blue). In the external validation plot, colors represent different diseases to illustrate validation using cases of the studied episignature (positive controls) and controls plus other cases that should not respond to the episignature (negative controls). Icons downloaded from BioRender.org. There is no copyright issue.

Article Snippet: , Qlucore , Web-based , Methylation analysis. , .

Techniques: Methylation, Biomarker Discovery