扫描泊松随机场寻找局部信号
Scanning a Poisson Random Field for Local Signals
摘要：
使用高通量DNA测序数据的局部基因组信号的检测可以被视为扫描泊松随机场以寻找过程速率的局部变化的问题。我们提出了一个基于可能性的框架，这样的扫描，并推导出公式的误报率控制和功率计算。该框架还可以容纳泊松过程的混合物，以处理过度分散。作为一个具体的、详细的例子，我们考虑通过配对末端DNA测序检测插入和缺失。我们提出了几个统计这个问题，比较他们的权力在目前的试验设计，并说明他们的应用Illumina白金基因组数据集。
英文摘要：
The detection of local genomic signals using high-throughput DNA sequencing data can be cast as a problem of scanning a Poisson random field for local changes in the rate of the process. We propose a likelihood-based framework for for such scans, and derive formulas for false positive rate control and power calculations. The framework can also accommodate mixtures of Poisson processes to deal with over-dispersion. As a specific, detailed example, we consider the detection of insertions and deletions by paired-end DNA-sequencing. We propose several statistics for this problem, compare their power under current experimental designs, and illustrate their application on an Illumina Platinum Genomes data set.
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