Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.

ABSTRACT:

Background

22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes including autistic spectrum disorder, schizophrenia, congenital heart defects, and immune deficiency. Many characteristics of the disorder are known, such as the phenotypic variability of the disease and the biological processes associated with it; however, the exact and systemic molecular mechanisms between the deleted area and its resulting clinical phenotypic expression, for example that of neuropsychiatric diseases, are not yet fully understood.

Results

Using previously published transcriptomics data (GEO:GSE59216), we constructed two datasets: one set compares

SUBMITTER: Shin W 

PROVIDER: S-EPMC10594698 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature