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

Structural chromosomal rearrangements result from different mechanisms of formation,
usually related to certain genomic architectural features that may lead to genetic instability …

The ends of chromosomes in mammals, called telomeres, are composed of a 6-bp repeat
sequence, TTAGGG, which is added on by the enzyme telomerase. In combination with a …

Impediments to DNA replication are known to induce gross chromosomal rearrangements
(GCRs) and copy-number variations (CNVs). GCRs and CNVs underlie human genomic …

Inverted duplications are a common type of copy number variation (CNV) in germline and
somatic genomes. Large duplications that include many genes can lead to both …

Different types of human gene mutation may vary in size, from structural variants (SVs) to
single base‐pair substitutions, but what they all have in common is that their nature, size and …

Replication failures induced by replication fork barriers (RFBs) or global replication stress
generate many of the chromosome rearrangement (CR) observed in human genomic …

Recently, a high incidence of chromosome instability (CIN) was reported in human cleavage
stage embryos. Based on the copy number changes that were observed in the blastomeres …

The first cell cycles following in vitro fertilization (IVF) of human gametes are prone to
chromosome instability. Many, but often not all, blastomeres of an embryo acquire a genetic …

Background Exposure to environmental stress often selects for cells that have amplified
genes involved in the amelioration of that stress. Sometimes the connection between the …