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 …

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

Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic
rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

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

Most land plants are now known to be ancient polyploids that have rediploidized.
Diploidization involves many changes in genome organization that ultimately restore …

With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

RNA-DNA hybrids are a major internal cause of DNA damage within cells, and their
degradation by RNase H enzymes is important for maintaining genomic stability. Here, we …

Although great progress has been made in the characterization of the off-target effects of
engineered nucleases, sensitive and unbiased genome-wide methods for the detection of …