A variety of mutational mechanisms shape the dynamic architecture of human genomes and
occasionally result in congenital defects and disease. Here, we used genome-wide long …

Genomic rearrangements may give rise to congenital disease and contribute to cancer
development. Recent evidence has shown that very complex genomic rearrangements in …

Chromosomal rearrangements are generally thought to accumulate gradually over many
generations. However, DNA sequencing of cancer and congenital disorders uncovered a …

A report in this issue describes" chromothripsis," a new mechanism for genetic instability in
cancer cells. Chromothripsis appears to be a cataclysmic event in which a single …

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 unprecedented resolution of high-throughput genomics has enabled the recent
discovery of a phenomenon by which specific regions of the genome are shattered and then …

Mutational processes that alter large genomic regions occur frequently in developing
tumors. They range from simple copy number gains and losses to the shattering and …

Chromothripsis represents a novel phenomenon in the structural variation landscape of
cancer genomes. Here, we analyze the genomes of ten patients with congenital disease …

Unbalanced translocations are a relatively common type of copy number variation and a
major contributor to neurodevelopmental disorders. We analyzed the breakpoints of 57 …

Background During the last decade, genome sequencing projects in cancer genomes as
well as in patients with congenital diseases and healthy individuals have led to the …