| Accession |
PRJCA013903 |
| Title |
Integrate multiple haploid omics analysis |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
Transcriptome or Gene expression
|
| Organisms |
Homo sapiens
|
| Description |
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. The correlation relationship remains valid in haploid-levels. 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. |
| Sample scope |
Multiisolate |
| Release date |
2023-12-15 |
| Data provider |
|
| Biomaterial provider |
Zhijun, Zhang |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Natural Science Foundation of the Department of Science and Technology of Hubei Province
|
|
2022CFB180
|
|
| Natural Science Foundation of the Department of Science and Technology of Hubei Province
|
|
2020CFB262
|
|
|
|
| Submitter |
chengchao
wu (ccwu@mail.hzau.edu.cn)
|
| Organization |
Huazhong Agricultural University |
| Submission date |
2022-12-15 |
