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 …

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 …

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 …

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 …

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 …

[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 …

[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 …

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 …

[HTML][HTML] Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging

SG Vorsanova, YB Yurov, IY Iourov - Molecular Cytogenetics, 2020 - Springer
Background Somatic chromosomal mosaicism is the presence of cell populations differing
with respect to the chromosome complements (eg normal and abnormal) in an individual …

Postzygotic mutations and where to find them–Recent advances and future implications in the field of non-neoplastic somatic mosaicism

K Wasilewska, T Gambin, M Rydzanicz… - … Research/Reviews in …, 2022 - Elsevier
The technological progress of massively parallel sequencing (MPS) has triggered a
remarkable development in the research on postzygotic mutations. Although the …