The functional impact and cellular context of mosaic structural variants (mSVs) in normal
tissues is understudied. Utilizing Strand-seq, we sequenced 1,133 single-cell genomes from …

Epidemiological prospective studies have shown that increased chromosomal aberrations
(CAs) in peripheral blood lymphocytes may predict cancer risk. Here, we report CAs in newly …

Clonal hematopoiesis of indeterminate potential (CHIP) and mosaic chromosomal
alterations (mCAs) represent two forms of clonal hematopoiesis where clones bearing …

Mosaic segmental and whole chromosome copy number alterations are postzygotic
variations known to be associated with several disorders. We have previously presented an …

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 …

With the introduction of increasingly sensitive technologies for mutation detection such as
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …

Chromosomal aberrations include translocations, deletions, duplications, inversions,
aneuploidies and complex rearrangements. They underlie genetic disease in roughly 15 …

Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …

Background Mosaicism for copy number and copy neutral chromosomal rearrangements
has been recently identified as a relatively common source of genetic variation in the normal …

Loss of the Y chromosome (LOY) is one of the most common somatic genomic alterations in
hematopoietic cells in men. However, due to the high prevalence of LOY as the sole …