Background Recent data from genome-wide chromosome conformation capture analysis
indicate that the human genome is divided into conserved megabase-sized self-interacting …

An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders …

Chromosome segregation errors during cell divisions generate aneuploidies and
micronuclei, which can undergo extensive chromosomal rearrangements such as …

Rearrangements of our genome can be responsible for inherited as well as sporadic traits.
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 …

Diploid and stable karyotypes are associated with health and fitness in animals. By contrast,
whole-genome duplications—doublings of the entire complement of chromosomes—are …

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

Genetic mutations accumulate in an organism's body throughout its lifetime. While somatic
single-nucleotide variants have been well characterized in the human body, the patterns …

Certain human traits such as neurodevelopmental disorders (NDs) and congenital
anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole …

Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic
abnormalities but cannot provide the precise, gene-level knowledge required to predict …

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include
growth and developmental delay and dysmorphism. Novel high resolution, whole genome …