Human genetic mosaicism is the presence of two or more cellular populations with distinct
genotypes in an individual who developed from a single fertilized ovum. While initially …

DNA variants that arise after conception can show mosaicism, varying in presence and
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …

Genomic mosaicism arising from post-zygotic mutation has recently been demonstrated to
occur in normal tissue of individuals ascertained with varied phenotypes, indicating that …

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

Clonal mosaicism arises when a postzygotic mutational event is detectable in
subpopulations of cells as an alternative genotype while not present in the germline …

Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …

Mosaicism refers to the occurrence of two or more genomes in an individual derived from a
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …

Mosaicism denotes an individual who has at least two populations of cells with distinct
genotypes that are derived from a single fertilized egg. Genetic variation among the cell …

Somatic mosaicism—the presence of genetically distinct populations of somatic cells in a
given organism—is frequently masked, but it can also result in major phenotypic changes …

In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-
wide association studies, we observed large chromosomal abnormalities in a subset of …