Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling

Genomic-scale somatic copy number alterations in healthy humans are difficult to investigate because of low occurrence rates and the structural variations' stochastic natures. Using a Tn5-transposase-assisted single-cell whole-genome sequencing method, we sequenced over 20,000 single lymphocyte...

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Bibliographic Details
Published in:Genome research 2022-01, Vol.32 (1), p.44-54
Main Authors: Liu, Lu, Chen, He, Sun, Cheng, Zhang, Jianyun, Wang, Juncheng, Du, Meijie, Li, Jie, Di, Lin, Shen, Jie, Geng, Shuang, Pang, Yuhong, Luo, Yingying, Wu, Chen, Fu, Yusi, Zheng, Zhe, Wang, Jianbin, Huang, Yanyi
Format: Article
Language:English
Subjects:
Aneuploidy
Cell size
Copy number
DNA Copy Number Variations
Female
Genomes
Genomics
Humans
Lymphocytes
Monosomy
Stochasticity
Transposase
Trisomy
Whole Genome Sequencing
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Summary:Genomic-scale somatic copy number alterations in healthy humans are difficult to investigate because of low occurrence rates and the structural variations' stochastic natures. Using a Tn5-transposase-assisted single-cell whole-genome sequencing method, we sequenced over 20,000 single lymphocytes from 16 individuals. Then, with the scale increased to a few thousand single cells per individual, we found that about 7.5% of the cells had large-size copy number alterations. Trisomy 21 was the most prevalent aneuploid event among all autosomal copy number alterations, whereas monosomy X occurred most frequently in over-30-yr-old females. In the monosomy X single cells from individuals with phased genomes and identified X-inactivation ratios in bulk, the inactive X Chromosomes were lost more often than the active ones.
ISSN:1088-9051
1549-5469
DOI:10.1101/gr.275453.121