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A super scalable algorithm for short segment detection.

Ning HaoYue Selena NiuFeifei XiaoHeping Zhang
Published in: Statistics in biosciences (2020)
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.
Keyphrases
  • copy number
  • loop mediated isothermal amplification
  • real time pcr
  • label free
  • mitochondrial dna
  • machine learning
  • deep learning
  • genome wide
  • electronic health record
  • dna methylation
  • quantum dots