Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Complex chromosome rearrangements, known as chromoanagenesis, are widespread in
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Genome editing has therapeutic potential for treating genetic diseases and cancer.
However, the currently most practicable approaches rely on the generation of DNA double …

The prevalence of highly repetitive sequences within the human Y chromosome has
prevented its complete assembly to date and led to its systematic omission from genomic …

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

How cell-to-cell copy number alterations that underpin genomic instability in human cancers
drive genomic and phenotypic variation, and consequently the evolution of cancer, remains …

Human genomes are typically assembled as consensus sequences that lack information on
parental haplotypes. Here we describe a reference-free workflow for diploid de novo …

The high-order three-dimensional (3D) organization of regulatory genomic elements
provides a topological basis for gene regulation, but it remains unclear how multiple …