Copy number variation and mosaicism

AJ Notini, JM Craig, SJ White - Cytogenetic and genome research, 2009 - karger.com
Mosaicism is the presence of cells within an organism that have a different genetic
composition despite deriving from a single zygote. The consequence of this depends on the …

Genomic copy number variation affecting genes involved in the cell cycle pathway: implications for somatic mosaicism

IY Iourov, SG Vorsanova, MA Zelenova… - … Journal of Genomics, 2015 - Wiley Online Library
Somatic genome variations (mosaicism) seem to represent a common mechanism for
human intercellular/interindividual diversity in health and disease. However, origins and …

Piecing together the problems in diagnosing low-level chromosomal mosaicism

C Robberecht, JP Fryns, JR Vermeesch - Genome medicine, 2010 - Springer
Low-level somatic chromosomal mosaicism, which usually arises from post-zygotic errors, is
a known cause of several well defined genetic syndromes and has been implicated in …

Detecting somatic mosaicism: considerations and clinical implications

ASA Cohen, SL Wilson, J Trinh, XC Ye - Clinical genetics, 2015 - Wiley Online Library
Human disease is rarely a matter of all or nothing; variable expressivity is generally
observed. Part of this variability is explained by somatic mosaicism, which can arise by a …

A genomic view of mosaicism and human disease

LG Biesecker, NB Spinner - Nature Reviews Genetics, 2013 - nature.com
Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide
polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …

Genetics of autosomal mosaic chromosomal alteration (mCA)

X Liu, Y Kamatani, C Terao - Journal of Human Genetics, 2021 - nature.com
Mosaic chromosomal alterations (mCAs) are frequently observed in cancer cells and are
regarded as one of the common features of cancers. Strikingly, accumulating studies …

Human embryonic genetic mosaicism and its effects on development and disease

SM Waldvogel, JE Posey, MA Goodell - Nature Reviews Genetics, 2024 - nature.com
Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …

Somatic mosaicism in biology and disease

H Ogawa, K Horitani, Y Izumiya… - Annual review of …, 2022 - annualreviews.org
Contrary to earlier beliefs, every cell in the individual is genetically different due to somatic
mutations. Consequently, tissues become a mixture of cells with distinct genomes, a …

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

CB Cook, L Armstrong… - Molecular …, 2021 - molecularcasestudies.cshlp.org
Identifying genetic mosaicism is important in establishing a diagnosis, assessing recurrence
risk, and providing accurate genetic counseling. Next-generation sequencing has allowed …

De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …