Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score
“Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score”, vol. 15, p. -, 2016.
, The aim of this study was to identify disrupted pathways related to Down syndrome (DS), and DS-associated congenital heart defects (DS-CHD). The gene expression profile and pathway data of 10 human DS patients and 5 control samples in E-GEOD-1789 were recruited and analyzed by the individualized pathway aberrance score (iPAS) method, consisting of the data processing, gene-level statistics, pathway-level statistics, and significant measurement steps. The pre-processing step identified 12,493 genes and 1022 pathways (4269 genes).