Abstract
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.
Original language | English (US) |
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Pages (from-to) | 18-33 |
Number of pages | 16 |
Journal | Statistics in Biosciences |
Volume | 13 |
Issue number | 1 |
DOIs | |
State | Published - Apr 2021 |
Externally published | Yes |
Keywords
- Copy number variation
- Inference
- Nonparametric method
- Signal detection
ASJC Scopus subject areas
- Statistics and Probability
- Biochemistry, Genetics and Molecular Biology (miscellaneous)