A recognized source of disease-causing genome alterations is erroneous repair of broken
chromosomes, which can be executed by two distinct mechanisms: non-homologous end …

Chromosomal translocations, rearrangements involving the exchange of segments between
chromosomes, were documented in humans in 1959. The first accurately reported clinical …

Background Since different types of genetic variants, from single nucleotide variants (SNVs)
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …

The relationship between evolutionary genome remodeling and the three-dimensional
structure of the genome remain largely unexplored. Here, we use the heavily rearranged …

Reliable detection of large structural variation (> 1000 bp) is important in both rare and
common genetic disorders. Whole genome sequencing (WGS) is a technology that may be …

Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no
demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic …

Chromosomal translocations are associated with several tumor types, including
hematopoietic malignancies, sarcomas, and solid tumors of epithelial origin, due to their …

The recent development of high-throughput sequencing platforms provided impressive
insights into the field of human genetics and contributed to considering structural variants …

Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …

Purpose Recent studies demonstrate that whole-genome sequencing enables detection of
cryptic rearrangements in apparently balanced chromosomal rearrangements (also known …