一种超可扩展的短段检测算法。

Pub Date : 2021-04-01 Epub Date: 2020-04-18 DOI:10.1007/s12561-020-09278-z
Ning Hao, Yue Selena Niu, Feifei Xiao, Heping Zhang
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引用次数: 1

摘要

在拷贝数变异(CNV)检测等许多应用中,目标是识别观测值与背景值具有不同均值或中位数的短片段。这些片段通常很短,隐藏在很长的序列中,因此很难找到。本文研究了一种超可伸缩短段(4S)检测算法。这种非参数方法将观测值超过分割检测阈值的位置聚类。该方法计算效率高,不依赖于高斯噪声假设。此外,我们还开发了一个框架来为检测到的片段分配显著性水平。我们通过理论、仿真和实际数据研究证明了我们提出的方法的优点。
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A super scalable algorithm for short segment detection.

In many applications such as copy number variant (CNV) detection, the goal is to identify short segments on which the observations have different means or medians from the background. Those segments are usually short and hidden in a long sequence, and hence are very challenging to find. We study a super scalable short segment (4S) detection algorithm in this paper. This nonparametric method clusters the locations where the observations exceed a threshold for segment detection. It is computationally efficient and does not rely on Gaussian noise assumption. Moreover, we develop a framework to assign significance levels for detected segments. We demonstrate the advantages of our proposed method by theoretical, simulation, and real data studies.

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