Genome-wide analysis methods, such as array comparative genomic hybridization (CGH)
and whole-genome sequencing (WGS), have greatly advanced the identification of structural …

Structural variants (SVs) can result in changes in gene expression due to abnormal chromatin
folding and cause disease. However, the prediction of such effects remains a challenge. …

The genome is organized in three-dimensional units called topologically associating domains
(TADs), through a process dependent on the cooperative action of cohesin and the DNA-…

Chromosome conformation capture methods have identified subchromosomal structures of
higher-order chromatin interactions called topologically associated domains (TADs) that are …

Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks
1 , but the exact nature and extent of their involvement in human Mendelian disease is …

Complex regulatory landscapes control the pleiotropic transcriptional activities of
developmental genes. For most genes, the number, location, and dynamics of their associated …

MYCN amplification drives one in six cases of neuroblastoma. The supernumerary gene
copies are commonly found on highly rearranged, extrachromosomal circular DNA (ecDNA). …

The regulatory specificity of enhancers and their interaction with gene promoters is thought
to be controlled by their sequence and the binding of transcription factors. By studying Pitx1, …

Extrachromosomal DNA (ecDNA) is prevalent in human cancers and mediates high expression
of oncogenes through gene amplification and altered gene regulation 1 . Gene induction …

Long-range gene regulation involves physical proximity between enhancers and promoters
to generate precise patterns of gene expression in space and time. However, in some cases, …