Multiple omic analysis data of fetal Down syndrome patient and healthy control

The one-dimensional genomic sequence embeds an uncharacterized hidden code for three-dimensional (3D) genome and gene transcription. However, the influence of genomic variations in chromosome abnormalities diseases, such as Down syndrome (DS), to the 3D genome and gene transcription remains elusive. Based on the genomic sequence from the parents of the DS patient, we systematically delineated the atlas of parental-specific haploid SNP, CNV, 3D genome and RNA profiles of the diencephalon from DS patient. The integrated haploid multi-omics analysis demonstrated that one-dimensional genomic variations including SNPs, CNVs in the DS patient are highly correlated with the alterations of the 3D genome and the subsequent gene transcription. Moreover, we revealed the 3D genome alteration associated mis-regulation of DS-related genes, which facilitates to understanding the pathogenesis of CA. Together, our study contributes to decipher the coding from one-dimensional genomic variations to 3D genomic architecture and the subsequent gene transcription in healthy and diseases.