Comparison of different copy number variations (CNVs) detection tools using whole-genome sequencing (WGS) data

被引:0
|
作者
Rodriguez Hidalgo, Maria [1 ]
Miranda, Jose I. [2 ]
Lara-Lopez, Araceli [3 ]
Reparaz-Bonilla, Iraia [1 ]
Irigoyen, Cristina [1 ]
Ruiz-Ederra, Javier [3 ]
Maynou, Joan [4 ,5 ,6 ]
机构
[1] IIIS Biodonostia, Sensorial Neurodegenerat Grp, San Sebastian, Spain
[2] Univ Pais Vasco UPV EHU, Dept Quim Organ 1, Joxe Mari Korta R&D Ctr, San Sebastian, Spain
[3] Miramoon Pharma, Donostia San Sebastian, Spain
[4] Hosp St Joan Deu, Barcelona, Spain
[5] Inst Recerca St Joan Deu, Genet & Mol Med IPER, Barcelona, Spain
[6] ISCII, Ctr Biomed Res Network Rare Dis CIBERER, Barcelona, Spain
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP18.016
引用
收藏
页码:294 / 294
页数:1
相关论文
共 50 条
  • [1] Evaluation of copy number alteration detection tools using whole-genome sequence data
    Ono, Hanako
    Gotoh, Masahiro
    Ushiama, Mineko
    Muramatsu, Reiko
    Kohno, Takashi
    Shiraishi, Kouya
    CANCER SCIENCE, 2025, 116 : 1063 - 1063
  • [2] Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion
    Xi, Ruibin
    Hadjipanayis, Angela G.
    Luquette, Lovelace J.
    Kim, Tae-Min
    Lee, Eunjung
    Zhang, Jianhua
    Johnson, Mark D.
    Muzny, Donna M.
    Wheeler, David A.
    Gibbs, Richard A.
    Kucherlapati, Raju
    Park, Peter J.
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (46) : E1128 - E1136
  • [3] A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data
    Gabrielaite, Migle
    Torp, Mathias Husted
    Rasmussen, Malthe Sebro
    Andreu-Sanchez, Sergio
    Vieira, Filipe Garrett
    Pedersen, Christina Bligaard
    Kinalis, Savvas
    Madsen, Majbritt Busk
    Kodama, Miyako
    Demircan, Guel Sude
    Simonyan, Arman
    Yde, Christina Westmose
    Olsen, Lars Ronn
    Marvig, Rasmus L.
    ostrup, Olga
    Rossing, Maria
    Nielsen, Finn Cilius
    Winther, Ole
    Bagger, Frederik Otzen
    CANCERS, 2021, 13 (24)
  • [4] CNOGpro: detection and quantification of CNVs in prokaryotic whole-genome sequencing data
    Brynildsrud, Ola
    Snipen, Lars-Gustav
    Bohlin, Jon
    BIOINFORMATICS, 2015, 31 (11) : 1708 - 1715
  • [5] Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data
    Johannes Smolander
    Sofia Khan
    Kalaimathy Singaravelu
    Leni Kauko
    Riikka J. Lund
    Asta Laiho
    Laura L. Elo
    BMC Genomics, 22
  • [6] 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
  • [7] Clinical utility of copy number variant (CNV) detection by whole genome sequencing (WGS)
    Lundie, B.
    Minoche, A. E.
    Gayevskiy, V.
    Lee, E.
    Ewans, L.
    Hollway, G.
    Ohnesorg, T.
    Sherstyuk, A.
    Dinger, M.
    Cowley, M. J.
    Burnett, L.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 502 - 502
  • [8] Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data
    Smolander, Johannes
    Khan, Sofia
    Singaravelu, Kalaimathy
    Kauko, Leni
    Lund, Riikka J.
    Laiho, Asta
    Elo, Laura L.
    BMC GENOMICS, 2021, 22 (01)
  • [9] 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)
  • [10] Precise and Robust Detection of Copy-Number Alterations (CNA) by Low-Pass Whole-Genome Sequencing (WGS) Using Ampli1 Whole-Genome Amplification (WGA)
    Ferrarini, A.
    Buson, G.
    Tononi, P.
    Forcato, C.
    Terracciano, M.
    Bacchi, F.
    Fontana, F.
    Medoro, G.
    Neves, R.
    Moehlendick, B.
    Stoecklein, N.
    Manaresi, N.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 1043 - 1043