Whole genome sequencing for copy number variation and structural variant analyses

被引:0
|
作者
Chatron, Nicolas [1 ]
Bernard, Virginie [2 ]
Richard, Celine [3 ]
Salaun, Gaelle [3 ]
Gouas, Laetitia [3 ]
Michel-Calemard, Laurence [1 ]
Charret, Quentin [2 ]
Klein, Valentin [2 ]
Fancello, Laura [2 ]
Nicolas, Laury [2 ]
Viari, Alain [4 ,5 ]
Ferrari, Anthony [4 ,5 ]
Blay, Jean Yves [5 ]
Till, Marianne [1 ]
Touraine, Renaud [6 ]
Ramond, Francis [6 ]
Harzallah, Ines [6 ]
Harbuz, Radu [7 ]
Satre, Veronique [7 ]
Schluth-Bolard, Caroline [1 ,8 ]
Vago, Philippe [3 ]
Coutton, Charles [7 ]
Vinciguerra, Christine [5 ,9 ]
Sanlaville, Damien [1 ,5 ]
Thevenon, Julien [2 ,7 ]
机构
[1] Serv Genet Hcl, Bron, France
[2] Auragen, Grenoble, France
[3] Chu Clermont Fd Estaing, Clermont Ferrand, France
[4] Leon Berard Ctr, Lyon, France
[5] Auragen, Lyon, France
[6] Chu Nord St Etienne, St Priest En Jarez, France
[7] Chu Grenoble Alpes, Serv Genet, La Tronche, France
[8] CHU Strasbourg, Strasbourg, France
[9] ISPB Fac Pharm Lyon, Lyon, France
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
P18.073.A
引用
收藏
页码:619 / 620
页数:2
相关论文
共 50 条
  • [1] Exome sequencing and whole genome sequencing for the detection of copy number variation
    Hehir-Kwa, Jayne Y.
    Pfundt, Rolph
    Veltman, Joris A.
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2015, 15 (08) : 1023 - 1032
  • [2] ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
    Andre E. Minoche
    Ben Lundie
    Greg B. Peters
    Thomas Ohnesorg
    Mark Pinese
    David M. Thomas
    Andreas Zankl
    Tony Roscioli
    Nicole Schonrock
    Sarah Kummerfeld
    Leslie Burnett
    Marcel E. Dinger
    Mark J. Cowley
    Genome Medicine, 13
  • [3] ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
    Minoche, Andre E.
    Lundie, Ben
    Peters, Greg B.
    Ohnesorg, Thomas
    Pinese, Mark
    Thomas, David M.
    Zankl, Andreas
    Roscioli, Tony
    Schonrock, Nicole
    Kummerfeld, Sarah
    Burnett, Leslie
    Dinger, Marcel E.
    Cowley, Mark J.
    GENOME MEDICINE, 2021, 13 (01)
  • [4] Improvement of large copy number variant detection by whole genome nanopore sequencing
    Cuenca-Guardiola, Javier
    de la Morena-Barrio, Belen
    Garcia, Juan L.
    Sanchis-Juan, Alba
    Corral, Javier
    Fernandez-Breis, Jesualdo T.
    JOURNAL OF ADVANCED RESEARCH, 2023, 50 : 145 - 158
  • [5] Long insert whole genome sequencing for copy number variant and translocation detection
    Liang, Winnie S.
    Aldrich, Jessica
    Tembe, Waibhav
    Kurdoglu, Ahmet
    Cherni, Irene
    Phillips, Lori
    Reiman, Rebecca
    Baker, Angela
    Weiss, Glen J.
    Carpten, John D.
    Craig, David W.
    NUCLEIC ACIDS RESEARCH, 2014, 42 (02)
  • [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] 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)
  • [8] Effective normalization for copy number variation detection from whole genome sequencing
    Janevski, Angel
    Varadan, Vinay
    Kamalakaran, Sitharthan
    Banerjee, Nilanjana
    Dimitrova, Nevenka
    BMC GENOMICS, 2012, 13
  • [9] Effective normalization for copy number variation detection from whole genome sequencing
    Angel Janevski
    Vinay Varadan
    Sitharthan Kamalakaran
    Nilanjana Banerjee
    Nevenka Dimitrova
    BMC Genomics, 13
  • [10] Copy number variation detection in Chinese indigenous cattle by whole genome sequencing
    Mei, Chugang
    Junjvlieke, Zainaguli
    Raza, Sayed Haidar Abbas
    Wang, Hongbao
    Cheng, Gong
    Zhao, Chuping
    Zhu, Wenjuan
    Zan, Linsen
    GENOMICS, 2020, 112 (01) : 831 - 836