基因组与成像方法检测和定量 DNA 双链断裂的能力与局限：一篇批判性评估
Detection and quantification of DNA double-strand breaks by genomic and imaging methods: a critical appraisal of capabilities and limitations
这篇综述批判性评估了基因组方法与成像方法在检测和定量 DNA 双链断裂（DSB）上的能力与局限。成像方法用于在单个细胞中检测和定位 DNA 断裂，基因组方法则利用大规模并行 DNA 测序在细胞群体中全基因组范围映射 DSB，两类方法给出的信息本质不同。综述指出，以计数检测到的唯一 DSB 和样本细胞数为基础的基因组方法会错误评估每个细胞的平均 DSB 数，并讨论了该问题的解决途径。文章还论述了两类方法的互补性及未来发展方向。
来源：Nucleic Acids Research · doi.org
DNA double-strand breaks (DSBs) are the most genotoxic form of DNA damage. Unrepaired DSBs may cause loss of chromosome fragments at mitosis, while incorrectly repaired DSBs can cause chromosome aberrations and other adverse effects, leading to cell cycle arrest, senescence, cell death, or neoplastic transformation. Detecting and quantifying DSBs is important in studies of genome instability, aging, and cancer. Methods of detecting and quantifying DSBs fall into two broad categories: imaging-based methods, used to detect and localize DNA breaks in individual cells, and genomic methods, a new category utilizing massively parallel DNA sequencing to map DSBs genome-wide in a cell population. Imaging and genomic methods yield fundamentally different information. This review focuses on a critical evaluation of the capabilities and limitations of genomic and imaging methods for the detection and quantification of DSBs. It explains why the class of genomic methods, where quantification is based on counting the detected unique DSBs and the number of cells in the sample, results in inaccurate assessment of the average number of DSBs per cell and how this problem can be solved. We also discuss complementarity of genomic and imaging methods and potential directions of their future development.