Copy number variation and mosaicism
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 …
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
Somatic genome variations (mosaicism) seem to represent a common mechanism for
human intercellular/interindividual diversity in health and disease. However, origins and …
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 …
a known cause of several well defined genetic syndromes and has been implicated in …
Detecting somatic mosaicism: considerations and clinical implications
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 …
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 …
polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …
Genetics of autosomal mosaic chromosomal alteration (mCA)
Mosaic chromosomal alterations (mCAs) are frequently observed in cancer cells and are
regarded as one of the common features of cancers. Strikingly, accumulating studies …
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 …
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 …
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 …
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 …
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …