A pan-tissue survey of mosaic chromosomal alterations in 948 individuals

T Gao, ME Kastriti, V Ljungström, A Heinzel… - Nature Genetics, 2023 - nature.com
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 …

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 …

[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 …

[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 …

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 …

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 …

Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer

YA Jakubek, K Chang, S Sivakumar, Y Yu… - Nature …, 2020 - nature.com
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 …

[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 …

[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 …

[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 …