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 …
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 …
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 …
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 …
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 …
[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 …
[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 …
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 …
[HTML][HTML] 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 …
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 …
remarkable development in the research on postzygotic mutations. Although the …