标题： 通过累积图检测拷贝数变异和拷贝数改变区域 显示英文标题

标题： Copy-number-variation and copy-number-alteration region detection by cumulative plots

摘要： 背景：具有拷贝数变异（在生殖细胞中）或拷贝数改变（在体细胞中）的区域对于人类疾病基因定位和癌症研究具有重要意义。它们代表了一种新型突变，比单核苷酸多态性更大规模。使用基因分型微阵列进行拷贝数变异检测已成为标准，需要改进分析方法。 结果：我们将累积图应用于从慢性淋巴细胞白血病患者样本中检测拷贝数变异/改变区域。分析了两组全基因组基因分型数据，包含317k个单核苷点多态性，一组来自正常细胞，另一组来自癌细胞。我们展示了累积图在检测染色体13上的9Mb（9 x 10^6碱基）半合子缺失和1Mb同源合子缺失中的实用性。我们还展示了检测低于100kb范围的小拷贝数变异/改变区域的可能性。 结论：作为一种图形工具，累积图是一种直观且无尺度（无窗口）的检测拷贝数变异/改变区域的方法，尤其是在这些区域较小时。 显示英文摘要

摘要： Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the single nucleotide polymorphisms. Using genotyping microarray for copy number variation detection has become standard, and there is a need for improving analysis methods. Results: We apply the cumulative plot to the detection of regions with copy number variation/alteration, on samples taken from a chronic lymphocytic leukemia patient. Two sets of whole-genome genotyping of 317k single nucleotide polymorphisms, one from the normal cell and another from the cancer cell, are analyzed. We demonstrate the utility of cumulative plot in detecting a 9Mb (9 x 10^6 bases) hemizygous deletion and 1Mb homozygous deletion on chromosome 13. We also show the possibility to detect smaller copy number variation/alteration regions below the 100kb range. Conclusions: As a graphic tool, the cumulative plot is an intuitive and a scale-free (window-less) way for detecting copy number variation/alteration regions, especially when such regions are small.