title: 3Disease Browser: A Web server for integrating 3D genome and disease-associated chromosome rearrangement data.
abstract: Chromosomal rearrangement (CR) events have been implicated in many tumor and non-tumor human diseases. CR events lead to their associated diseases by disrupting gene and protein structures. Also, they can lead to diseases through changes in chromosomal 3D structure and gene expression. In this study, we search for CR-associated diseases potentially caused by chromosomal 3D structure alteration by integrating Hi-C and ChIP-seq data. Our algorithm rediscovers experimentally verified disease-associated CRs (polydactyly diseases) that alter gene expression by disrupting chromosome 3D structure. Interestingly, we find that intellectual disability may be a candidate disease caused by 3D chromosome structure alteration. We also develop a Web server (3Disease Browser, http://3dgb.cbi.pku.edu.cn/disease/) for integrating and visualizing disease-associated CR events and chromosomal 3D structure.
authors.affiliation: Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies; School of Life Sciences, Peking University, Beijing, China.
authors.forename: Ruifeng
authors.initials: R
authors.lastname: Li
authors.affiliation: School of Life Sciences, Tsinghua University, Beijing, China.
authors.forename: Yifang
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies; School of Life Sciences, Peking University, Beijing, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Li
authors.affiliation: Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies; School of Life Sciences, Peking University, Beijing, China.|Center for Statistical Science; Center for Bioinformatics, Peking University, Beijing, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Li
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations; D022004:Chromosome Structures / Q000737:chemistry / Q000235:genetics; D019295:Computational Biology / Q000379:methods*; D004194:Disease / Q000235:genetics*; D020869:Gene Expression Profiling; D016678:Genome / Q000235:genetics*; D006801:Humans; D021621:Imaging, Three-Dimensional; D051379:Mice; D008958:Models, Molecular; D064878:Web Browser