The ageing genome, clonal mosaicism and chronic disease
MJ Machiela, SJ Chanock - Current opinion in genetics & development, 2017 - Elsevier
Clonal mosaicism arises when a postzygotic mutational event is detectable in
subpopulations of cells as an alternative genotype while not present in the germline …
subpopulations of cells as an alternative genotype while not present in the germline …
Somatic mosaicism in the human genome
D Freed, EL Stevens, J Pevsner - Genes, 2014 - mdpi.com
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 …
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …
Detectable clonal mosaicism and its relationship to aging and cancer
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 …
wide association studies, we observed large chromosomal abnormalities in a subset of …
Extensive hidden genomic mosaicism revealed in normal tissue
S Vattathil, P Scheet - The American Journal of Human Genetics, 2016 - cell.com
Genomic mosaicism arising from post-zygotic mutation has recently been demonstrated to
occur in normal tissue of individuals ascertained with varied phenotypes, indicating that …
occur in normal tissue of individuals ascertained with varied phenotypes, indicating that …
Mosaicism and clinical genetics
NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
With the introduction of increasingly sensitive technologies for mutation detection such as
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …
The etiology of clonal mosaicism in human aging and disease
S Massaar, MA Sanders - Aging and Cancer, 2023 - Wiley Online Library
Our DNA is consistently assaulted by a variety of intrinsic and extrinsic mutational factors.
Fortunately, DNA repair provides for protective barriers that limit the full manifestation of …
Fortunately, DNA repair provides for protective barriers that limit the full manifestation of …
Detectable clonal mosaicism in the human genome
MJ Machiela, SJ Chanock - Seminars in hematology, 2013 - Elsevier
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 …
genotypes in an individual who developed from a single fertilized ovum. While initially …
Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging
Background Somatic chromosomal mosaicism is the presence of cell populations differing
with respect to the chromosome complements (eg normal and abnormal) in an individual …
with respect to the chromosome complements (eg normal and abnormal) in an individual …
Genomic mosaicism formed by somatic variation in the aging and diseased brain
I Costantino, J Nicodemus, J Chun - Genes, 2021 - mdpi.com
Over the past 20 years, analyses of single brain cell genomes have revealed that the brain is
composed of cells with myriad distinct genomes: the brain is a genomic mosaic, generated …
composed of cells with myriad distinct genomes: the brain is a genomic mosaic, generated …
Mosaicism in health and disease—clones picking up speed
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and
that are not usually inherited by the next generation. Although there is a paucity of research …
that are not usually inherited by the next generation. Although there is a paucity of research …