Data from: Quantitative detection of rare interphase chromosome breaks and translocations by high-throughput imaging

We report a method for the sensitive detection of rare chromosome breaks and translocations in interphase cells. HiBA-FISH (High-throughput break-apart FISH) combines high-throughput imaging with the measurement of the spatial separation of FISH probes flanking target genome regions of interest. As proof-of-principle, we apply hiBA-FISH to detect with high sensitivity and specificity rare chromosome breaks and translocations in the anaplastic large cell lymphoma breakpoint regions of NPM1 and ALK. This method complements existing approaches to detect translocations by overcoming the need for precise knowledge of translocation breakpoints and it extends traditional FISH by its quantitative nature.本研究报道了一种可灵敏检测间期细胞中稀有染色体断裂与易位的方法。HiBA-FISH（High-throughput break-apart FISH）将高通量成像技术与目标基因组感兴趣区域侧翼的荧光原位杂交（fluorescence in situ hybridization，FISH）探针空间间距测量相结合。作为原理验证，我们将该技术应用于检测NPM1与ALK的间变性大细胞淋巴瘤断点区域内的稀有染色体断裂与易位，展现出高灵敏度与特异性。该方法无需精准知晓易位断点信息即可实现易位检测，可对现有易位检测手段形成有效补充；同时其定量特性拓展了传统FISH的应用范畴。