Congenital heart defect

Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score

Y. Q. Chen, Li, T., Guo, W. Y., Su, F. J., Zhang, Y. X., Chen, Y. Q., Li, T., Guo, W. Y., Su, F. J., Zhang, Y. X., Chen, Y. Q., Li, T., Guo, W. Y., Su, F. J., and Zhang, Y. X., 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).

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