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Updated: May 20, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Copy-number alterations in cell-free DNA can be transient or harbingers of clonal hematopoiesis
Stefania Tuveri1, Nathalie Brison1, Tatjana Jatsenko1
1Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Abstract:
Genome-wide plasma cfDNA pan-cancer screening of 1002 healthy elderly identified 15 individuals with CNAs of unknown origin. Nine participants were reassessed over 3-5 years through health questionnaires, WB-MRI, and cfDNA and blood analyses. CNAs resolved in two cases but persisted in seven mainly associated with low-grade clonal mosaicism. These findings suggest cfDNA CNAs may be transient or serve as early markers of clonal mosaicism, preceding clinical detection by years.
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