[HTML][HTML] 嵌合染色体变异全基因组关联研究进展

赵禹碹, 宋明钰, 余灿清, 吕筠, 李立明 - 中华流行病学杂志, 2023 - html.rhhz.net
嵌合染色体变异(mCA) 指体细胞突变大规模发生在染色体上使体内有多种核型细胞系的现象,
被视为人类衰老表型之一. mCA 与血液系统癌症, 心脑血管疾病等多种慢性病存在关联, 但mCA …

Progress on genome-wide association studies on mosaic chromosomal alterations

YX Zhao, MY Song, CQ Yu, J Lyu, LM Li… - … liu Xing Bing xue za zhi …, 2023 - europepmc.org
Mosaic chromosomal alteration (mCA) is referred to as large-scale somatic mutations on
chromosomes, which results in diverse karyotypes in body. The mCA is regarded as one of …

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 …

Research progress on the epidemiological distribution and influencing factors of autosomal mosaic chromosomal alteration

MY Song, YX Zhao, YT Han, CQ Yu, J Lyu… - Zhonghua liu Xing …, 2022 - europepmc.org
Somatic mosaicism is defined as the occurrence and accumulation of somatic mutations in
humans, and mosaic chromosomal alterations (mCA) are recognized as one of the aging …

Mosaic chromosomal alterations in blood across ancestries via whole-genome sequencing

YA Jakubek, Y Zhou, A Stilp, J Bacon, J Wong, Z Ozcan… - Cancer Research, 2023 - AACR
Mosaic mutations in blood are common with increasing age and are prognostic markers for
cancer, cardiovascular dysfunction and other diseases. This group of acquired mutations …

[HTML][HTML] Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in …

SH Lin, DW Brown, B Rose, F Day, OW Lee, SM Khan… - Cell & bioscience, 2021 - Springer
Background Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses
and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many …

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 …

Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality

AK Hubbard, DW Brown, MJ Machiela - Leukemia research, 2023 - Elsevier
Mosaic chromosomal alterations (mCAs) are the clonal expansion of large somatically
acquired structural chromosomal changes present on the autosomes and sex …

[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 …

Mosaic chromosomal alterations and human longevity

A Leshchyk, Q Xiang, SL Andersen… - The Journals of …, 2023 - academic.oup.com
Mosaic chromosomal alterations (mCAs) are structural alterations associated with aging,
cancer, cardiovascular disease, infectious diseases, and mortality. The distribution of mCAs …