Mutation rates and fitness consequences of mosaic chromosomal alterations in blood
CJ Watson, JR Blundell - Nature genetics, 2023 - nature.com
Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades
before diagnosis. A quantitative understanding of the rate at which these events occur, and …
before diagnosis. A quantitative understanding of the rate at which these events occur, and …
A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
Genetic mutations accumulate in an organism's body throughout its lifetime. While somatic
single-nucleotide variants have been well characterized in the human body, the patterns …
single-nucleotide variants have been well characterized in the human body, the patterns …
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 …
Detectable clonal mosaicism from birth to old age and its relationship to cancer
We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …
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 …
Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK …
Background Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses
and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many …
and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many …
Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer
Mosaicism, the presence of subpopulations of cells bearing somatic mutations, is associated
with disease and aging and has been detected in diverse tissues, including apparently …
with disease and aging and has been detected in diverse tissues, including apparently …
Exploring the variation within
EZ Macosko, SA McCarroll - Nature genetics, 2012 - nature.com
Exploring the variation within | Nature Genetics Skip to main content Thank you for visiting
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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 …
Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis
Stably acquired mutations in hematopoietic cells represent substrates of selection that may
lead to clonal hematopoiesis (CH), a common state in cancer patients that is associated with …
lead to clonal hematopoiesis (CH), a common state in cancer patients that is associated with …