Understanding how chromatin is folded in the nucleus is fundamental to understanding its
function. Although 3D genome organization has been historically difficult to study owing to a …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Extrachromosomal DNA (ecDNA) amplification promotes intratumoral genetic heterogeneity
and accelerated tumor evolution,–; however, its frequency and clinical impact are unclear …

The discovery of drivers of cancer has traditionally focused on protein-coding genes,,–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …

The Hi-C technique has been shown to be a promising method to detect structural variations
(SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV …

In eukaryotes, the genome does not exist as a linear molecule but instead is hierarchically
packaged inside the nucleus. This complex genome organization includes multiscale …

Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …

Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose
debilitating effects on the developing child, and highlight the need for molecularly targeted …

Chromatin topology is intricately linked to gene expression, yet its functional requirement
remains unclear. Here, we comprehensively assessed the interplay between genome …