Structural copy number variation (CNV) is a frequent cause of human variation and disease.
Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large …

Mosaicism refers to the presence of two or more populations of genetically distinct cells
within an individual, all of which originate from a single zygote. Previous literature estimated …

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 …

Somatic genetic variants have been studied for several years mostly concerning cancer,
where they contribute to its origin and development. It is also clear that the somatic variants …

There are increasing evidences showing the contribution of somatic genetic variants to non-
cancer diseases. However, their detection using massive parallel sequencing methods still …

The discovery of copy number variations (CNV) in the human genome opened new
perspectives on the study of the genetic causes of inherited disorders and the aetiology of …

Disorders of somatic mosaicism (DoSM) are a diverse group of syndromic and non-
syndromic conditions caused by mosaic variants in genes that regulate cell survival and …

To further explore the extent of structural large‐scale variation in the human genome, we
assessed copy number variations (CNVs) in a series of 71 healthy subjects from three ethnic …

Our DNA is consistently assaulted by a variety of intrinsic and extrinsic mutational factors.
Fortunately, DNA repair provides for protective barriers that limit the full manifestation of …

Constitutional chromosomal mosaicism is the result of postfertilization mitotic error, the
mechanism of which is not fully understood. The distribution of mosaicism in the conceptus …