3Disease Browser: A Web server for integrating 3D genome and disease-associated chromosome rearrangement data

Area of Science:

• Genomics
• Human Genetics
• Bioinformatics

Background:

• Chromosomal rearrangements (CRs) are linked to numerous human diseases.
• CRs can disrupt gene structure, protein function, and gene expression.
• Alterations in the 3D chromosomal structure are increasingly recognized as a mechanism for disease development.

Purpose of the Study:

• To investigate chromosomal rearrangements (CRs) associated with diseases caused by 3D chromosomal structure alterations.
• To integrate Hi-C and ChIP-seq data to identify novel CR-disease associations.
• To develop a computational tool for visualizing and analyzing these events.

Main Methods:

• Integration of Hi-C and ChIP-seq data.
• Development of an algorithm to detect CRs impacting 3D chromosome structure and gene expression.
• Validation of findings against known disease-associated CRs.

Main Results:

• Successfully identified experimentally verified CRs associated with polydactyly diseases.
• Discovered that CRs can alter gene expression through changes in 3D chromosome structure.
• Identified intellectual disability as a potential candidate disease linked to 3D chromosome structure alterations.

Conclusions:

• Chromosomal 3D structure alterations play a significant role in CR-associated diseases.
• The developed methods and the 3Disease Browser provide valuable tools for studying CRs and their impact on human health.
• Further research into 3D genome organization is crucial for understanding and potentially treating genetic disorders.