XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

被引:0
|
作者
Alberto Magi
Tommaso Pippucci
Carlo Sidore
机构
[1] University of Florence,Department of Experimental and Clinical Medicine
[2] University of Bologna,Medical Genetics Unit, Department of Medical and Surgical Sciences, Polyclinic Sant’Orsola
[3] Cittadella Universitaria di Cagliari,Malpighi
来源
BMC Genomics | / 18卷
关键词
CNVs; HMM; Whole-Genome Sequencing;
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] XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments
    Magi, Alberto
    Pippucci, Tommaso
    Sidore, Carlo
    BMC GENOMICS, 2017, 18
  • [2] Combining callers improves the detection of copy number variants from whole-genome sequencing
    Marie Coutelier
    Manuel Holtgrewe
    Marten Jäger
    Ricarda Flöttman
    Martin A. Mensah
    Malte Spielmann
    Peter Krawitz
    Denise Horn
    Dieter Beule
    Stefan Mundlos
    European Journal of Human Genetics, 2022, 30 : 178 - 186
  • [3] Combining callers improves the detection of copy number variants from whole-genome sequencing
    Coutelier, Marie
    Holtgrewe, Manuel
    Jaeger, Marten
    Floettman, Ricarda
    Mensah, Martin A.
    Spielmann, Malte
    Krawitz, Peter
    Horn, Denise
    Beule, Dieter
    Mundlos, Stefan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (02) : 178 - 186
  • [4] Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
    Junhua Rao
    Lihua Peng
    Xinming Liang
    Hui Jiang
    Chunyu Geng
    Xia Zhao
    Xin Liu
    Guangyi Fan
    Fang Chen
    Feng Mu
    BMC Bioinformatics, 21
  • [5] Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
    Rao, Junhua
    Peng, Lihua
    Liang, Xinming
    Jiang, Hui
    Geng, Chunyu
    Zhao, Xia
    Liu, Xin
    Fan, Guangyi
    Chen, Fang
    Mu, Feng
    BMC BIOINFORMATICS, 2020, 21 (01)
  • [6] Copy Number Variants Identified By Shallow Whole-Genome Sequencing in Multiple Myeloma
    Li, Jiali
    Xiang, Xixi
    Rao, Jun
    Zhou, Sha
    Zeng, Yunjing
    Zhang, Xi
    Gao, Li
    BLOOD, 2024, 144 : 6931 - 6931
  • [7] Clinical Validation of Whole-Genome Sequencing for the Detection of Copy Number Variation
    Thayanithy, V.
    Thyagarajan, B.
    Bower, M.
    Munro, S.
    Lam, H.
    Bray, S.
    Vivek, S.
    Schomaker, M.
    Daniel, J.
    Henzler, C.
    Nelson, A.
    Yohe, S.
    McIntyre, K.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10): : S27 - S27
  • [8] Detecting Copy Number Variation from Whole-Genome Sequencing Data
    Jobanputra, V.
    Klein, R.
    Nahum, O.
    Yang, S.
    Ballinger, D.
    Beilharz, E.
    Levy, B.
    CYTOGENETIC AND GENOME RESEARCH, 2014, 142 (03)
  • [9] WisecondorX: improved copy number detection for routine shallow whole-genome sequencing
    Raman, Lennart
    Dheedene, Annelies
    De Smet, Matthias
    Van Dorpe, Jo
    Menten, Bjorn
    NUCLEIC ACIDS RESEARCH, 2019, 47 (04) : 1605 - 1614
  • [10] Combining targeted sequencing and ultra-low-pass whole-genome sequencing for accurate somatic copy number alteration detection
    Junfeng Fu
    Weihua Guo
    Cheng Yan
    Zhenyang Lv
    Yu Wang
    Ze Wang
    Zhe Fan
    Ting Lei
    Functional & Integrative Genomics, 2021, 21 : 161 - 169