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 …
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 …
[HTML][HTML] 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 …
[HTML][HTML] 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 …
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 …
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 …
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 …
[PDF][PDF] Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
R Truty, S Rojahn, K Ouyang, C Kautzer… - The American Journal of …, 2023 - cell.com
DNA variants that arise after conception can show mosaicism, varying in presence and
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …
[PDF][PDF] 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 …
[HTML][HTML] Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing
YA Jakubek, Y Zhou, A Stilp, J Bacon, JW Wong… - Nature …, 2023 - nature.com
Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers
for a host of human diseases. Here, to gain a better understanding of mCA rates in …
for a host of human diseases. Here, to gain a better understanding of mCA rates in …