Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

被引：0
|
作者：
Ruen Yao
Cheng Zhang
Tingting Yu
Niu Li
Xuyun Hu
Xiumin Wang
Jian Wang
Yiping Shen
机构：
[1] Shanghai Jiaotong University School of Medicine,Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center
[2] Boston Children’s Hospital,Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center
[3] Shanghai Jiaotong University School of Medicine,undefined
来源：
Molecular Cytogenetics | / 10卷
关键词：
Clinical sequencing; Copy number variants; Whole exome sequencing; Structural variation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
    Yao, Ruen
    Zhang, Cheng
    Yu, Tingting
    Li, Niu
    Hu, Xuyun
    Wang, Xiumin
    Wang, Jian
    Shen, Yiping
    MOLECULAR CYTOGENETICS, 2017, 10
  • [2] An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data
    Tan, Renjie
    Wang, Yadong
    Kleinstein, Sarah E.
    Liu, Yongzhuang
    Zhu, Xiaolin
    Guo, Hongzhe
    Jiang, Qinghua
    Allen, Andrew S.
    Zhu, Mingfu
    HUMAN MUTATION, 2014, 35 (07) : 899 - 907
  • [3] Modeling Read Counts for CNV Detection in Exome Sequencing Data
    Love, Michael I.
    Mysickova, Alena
    Sun, Ruping
    Kalscheuer, Vera
    Vingron, Martin
    Haas, Stefan A.
    STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY, 2011, 10 (01)
  • [4] Evaluation of somatic copy number estimation tools for whole-exome sequencing data
    Nam, Jae-Yong
    Kim, Nayoung K. D.
    Kim, Sang Cheol
    Joung, Je-Gun
    Xi, Ruibin
    Lee, Semin
    Park, Peter J.
    Park, Woong-Yang
    BRIEFINGS IN BIOINFORMATICS, 2016, 17 (02) : 185 - 192
  • [5] In-Depth Overview of CNV Prediction Tools for Exome Sequencing Data
    Iakovishina, D.
    Vachnadze, A.
    Afanasyev, A.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 805 - 805
  • [6] Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read-Depth Based Algorithm
    Eslami, O.
    Cuskelly, G. J.
    O'Connor, A.
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (10): : 1557 - 1558
  • [7] Evaluation of Copy Number Variation (CNV) detection methods in whole exome sequencing data
    Zhang, Peng
    Ling, Hua
    Pugh, Elizabeth
    Hetrick, Kurt
    Witmer, Dane
    Sobreira, Nara
    Valle, David
    Doheny, Kimberly
    GENETIC EPIDEMIOLOGY, 2015, 39 (07) : 597 - 597
  • [8] Fusion Gene Detection Using Whole-Exome Sequencing Data in Cancer Patients
    Deng, Wenjiang
    Murugan, Sarath
    Lindberg, Johan
    Chellappa, Venkatesh
    Shen, Xia
    Pawitan, Yudi
    Vu, Trung Nghia
    FRONTIERS IN GENETICS, 2022, 13
  • [9] An evaluation of copy number variation detection tools for cancer using whole exome sequencing data
    Zare, Fatima
    Dow, Michelle
    Monteleone, Nicholas
    Hosny, Abdelrahman
    Nabavi, Sheida
    BMC BIOINFORMATICS, 2017, 18
  • [10] An evaluation of copy number variation detection tools for cancer using whole exome sequencing data
    Fatima Zare
    Michelle Dow
    Nicholas Monteleone
    Abdelrahman Hosny
    Sheida Nabavi
    BMC Bioinformatics, 18
12345