Advances in Single Cell DNA Sequencing
XIONG Hui1, WANG Kaile1,2*
Bulk DNA sequencing has significantly advanced the discovery and detection of genetic variations, including point mutations, copy number alterations, and structural variants. However, because it relies on DNA extracted from large populations of cells, bulk sequencing primarily captures high-frequency events and fails to resolve rare variations present in small subpopulations and single cells. To address this limitation and enable precise characterization of cellular heterogeneity, many innovative scDNA-seq (single-cell DNA sequencing) technologies have been developed. These methods have profoundly enhanced rcurrent understanding of tumor genomics, human genetics, and the underlying mechanisms of disease initiation and progression, such as cancer. This review provides an overview of the recent advances, current challenges and applications, also discusses future directions of scDNA-seq technologies.
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