It has long been known that cancer is caused by somatic changes. However, increasingly
data are being collected that indicate that many other diseases can be caused by somatic …

Background: De novo mutations underlie individually rare but collectively common pediatric
congenital disorders. Some of these mutations can also be detected in tissues and from cells …

Somatic mutational mosaicism is a common feature of monogenic genetic disorders,
particularly in diseases such as retinoblastoma, with high rates of de novo mutations. The …

Postzygotic mutations are DNA changes acquired from the zygote stage onwards throughout
the lifespan. These changes lead to differences in DNA sequence among cells of an …

Somatic mutations occur after the formation of the zygote, reflecting random mutations
during normal mitotic cell divisions of embryonic development, and are hence present in …

When a potential disease-causing variant is detected in a proband, parental testing is used
to determine the mode of inheritance. This study demonstrates that next-generation …

It is hard to imagine that all the cells of the human organism (about 1014) share identical
genome. Moreover, the number of mitoses (about 1016) required for the organism's …

Every cell in the human brain possesses a unique genome that is the product of the
accumulation of somatic mutations starting from the first postzygotic cell division and …

Aging is a complex process strongly determined by genetics. Previous reports have shown
that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy …

Chromosomal mosaicism is common throughout human pre-and post-implantation
development. However, the incidence and characteristics of mosaicism in human blastocyst …