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Author:

Feng, Xuan (Feng, Xuan.) | Hu, Huan (Hu, Huan.) | Zhao, Zhongmeng (Zhao, Zhongmeng.) | Zhang, Xuanping (Zhang, Xuanping.) | Wang, Jiayin (Wang, Jiayin.)

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Abstract:

Genomic micro-satellites are the genomic regions that consist of short and repetitive DNA motifs. In contrast to unique genome, genomic micro-satellites expose high intrinsic polymorphisms, which mainly derive from variability in length. Length distributions are widely used to represent the polymorphisms. Recent studies report that some micro-satellites alter their length distributions significantly in tumor tissue samples comparing to the ones observed in normal samples, which becomes a hot topic in cancer genomics. Several state-of-the-art approaches are proposed to identify the length distributions from the sequencing data. However, the existing approaches can only handle the micro-satellites shorter than one read length, which limits the potential research on long micro-satellite events. In this article, we propose a probabilistic approach, implemented as ELMSI that estimates the length distributions of the micro-satellites longer than one read length. The core algorithm works on a set of mapped reads. It first clusters the reads, and a k-mer extension algorithm is adopted to detect the unit and breakpoints as well. Then, it conducts an expectation maximization algorithm to approach the true length distributions. According to the experiments, ELMSI is able to handle micro-satellites with the length spectrum from shorter than one read length to 10 kbps scale. A series of comparison experiments are applied, which vary the numbers of micro-satellite regions, read lengths and sequencing coverages, and ELMSI outperforms MSIsensor in most of the cases. © 2018, Springer International Publishing AG, part of Springer Nature.

Keyword:

Estimation approaches Expectation-maximization algorithms Length distributions Micro satellite Next-generation sequencing Potential researches Probabilistic approaches State-of-the-art approach

Author Community:

  • [ 1 ] [Feng, Xuan;Hu, Huan;Zhao, Zhongmeng;Zhang, Xuanping;Wang, Jiayin]School of Electronic and Information Engineering, Xi’an Jiaotong University, Xi’an; Shaanxi; 710049, China
  • [ 2 ] [Feng, Xuan;Hu, Huan;Zhao, Zhongmeng;Zhang, Xuanping;Wang, Jiayin]Shaanxi Engineering Research Center of Medical and Health Big Data, Institute of Data Science and Information Quality, Xi’an Jiaotong University, Xi’an; Shaanxi; 710049, China

Reprint Author's Address:

  • [Wang, Jiayin]School of Electronic and Information Engineering, Xi’an Jiaotong University, Xi’an; Shaanxi; 710049, China;;[Wang, Jiayin]Shaanxi Engineering Research Center of Medical and Health Big Data, Institute of Data Science and Information Quality, Xi’an Jiaotong University, Xi’an; Shaanxi; 710049, China;;

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Source :

Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

ISSN: 0302-9743

Year: 2018

Publish Date: 2018

Volume: 10813 LNBI

Page: 461-472

Language: English

0 . 4 0 2

JCR@2005

JCR Journal Grade:2

Cited Count:

WoS CC Cited Count: 0

SCOPUS Cited Count:

ESI Highly Cited Papers on the List: 0 Unfold All

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30 Days PV: 0

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