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Author:

Yuan, Xiguo (Yuan, Xiguo.) | Bai, Jun (Bai, Jun.) | Zhang, Junying (Zhang, Junying.) | Yang, Liying (Yang, Liying.) | Duan, Junbo (Duan, Junbo.) | Li, Yaoyao (Li, Yaoyao.) | Gao, Meihong (Gao, Meihong.)

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Abstract:

Characterizing copy number variations (CNVs) from sequenced genomes is a both feasible and cost-effective way to search for driver genes in cancer diagnosis. A number of existing algorithms for CNV detection only explored part of the features underlying sequence data and copy number structures, resulting in limited performance. Here, we describe CONDEL, a method for detecting CNVs from single tumor samples using high-throughput sequence data. CONDEL utilizes a novel statistic in combination with a peel-off scheme to assess the statistical significance of genome bins, and adopts a Bayesian approach to infer copy number gains, losses, and deletion zygosity based on statistical mixture models. We compare CONDEL to six peer methods on a large number of simulation datasets, showing improved performance in terms of true positive and false positive rates, and further validate CONDEL on three real datasets derived from the 1000 Genomes Project and the EGA archive. CONDEL obtained higher consistent results in comparison with other three single sample-based methods, and exclusively identified a number of CNVs that were previously associated with cancers. We conclude that CONDEL is a powerful tool for detecting copy number variations on single tumor samples even if these are sequenced at low-coverage. IEEE

Keyword:

Bayesian inference Bayes method Cancer Copy number variations deletion zygosity Drugs Genomics NGS data Statistical significance test

Author Community:

  • [ 1 ] [Yuan, Xiguo]School of Computer Science and Technology, Xidian University, 47905 Xian, Shaanxi China (e-mail: xiguoyuan@mail.xidian.edu.cn)
  • [ 2 ] [Bai, Jun]Department of Medical Oncology, Shaanxi Provincial People's Hospital, Xi'an, Shaanxi China (e-mail: edgemen@163.com)
  • [ 3 ] [Zhang, Junying]School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi China (e-mail: jyzhang@mail.xidian.edu.cn)
  • [ 4 ] [Yang, Liying]School of Computer Science and Technology, Xidian University, 47905 Xian, Shaanxi China (e-mail: yangliying1208@163.com)
  • [ 5 ] [Duan, Junbo]Department of Biomedical Engineering, School of Life Science and Technology, Xi'an Jiaotong University, Xian, Shaanxi China (e-mail: junbo.duan@mail.xjtu.edu.cn)
  • [ 6 ] [Li, Yaoyao]School of Computer Science and Technology, Xidian University, 47905 Xian, Shaanxi China (e-mail: yaoyaoli_1@163.com)
  • [ 7 ] [Gao, Meihong]School of Computer Science and Technology, Xidian University, 47905 Xian, Shaanxi China (e-mail: 13484907397@163.com)

Reprint Author's Address:

  • [Yuan, Xiguo]School of Computer Science and Technology, Xidian University, Xi'an; 710071, China;;

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Source :

IEEE/ACM Transactions on Computational Biology and Bioinformatics

ISSN: 1545-5963

Year: 2020

Issue: 4

Volume: 17

Page: 1141-1153

3 . 0 1 5

JCR@2019

ESI Discipline: COMPUTER SCIENCE;

ESI HC Threshold:70

JCR Journal Grade:2

CAS Journal Grade:2

Cited Count:

WoS CC Cited Count: 33

SCOPUS Cited Count: 39

ESI Highly Cited Papers on the List: 0 Unfold All

WanFang Cited Count:

Chinese Cited Count:

30 Days PV: 5

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