Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases

被引：0
|
作者：
Hollway, Georgina [1 ,2 ]
Bakshi, Madhura [1 ,2 ,3 ]
Colley, Alison [3 ]
Ewans, Lisa [1 ,2 ]
Ohnesorg, Thomas [1 ]
Lee, Eric [1 ]
Kirk, Edwin [1 ]
Lau, Chiyan [1 ]
Wu, Kathy [4 ]
Richardson, Ebony [1 ]
Statham, Aaron [1 ]
Burnett, Leslie [1 ,2 ]
Lundie, Ben [1 ,2 ]
Dinger, Marcel [1 ,2 ]
机构：
[1] Genome One, Sydney, NSW, Australia
[2] Garvan Inst Med Res, Sydney, NSW, Australia
[3] Liverpool Hosp, Clin Genet Serv SWSLHD, Liverpool, NSW, Australia
[4] St Vincents Hosp, Clin Genom Unit, Sydney, NSW, Australia
来源：
HUMAN GENOMICS | 2018年 / 12卷
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A127
引用
收藏
页数：2
相关论文
共 50 条
  • [1] Editorial: Whole Genome Sequencing for rare diseases
    Di Resta, Chiara
    D'Argenio, Valeria
    FRONTIERS IN MEDICINE, 2023, 10
  • [2] The Challenge of Whole Genome Sequencing in a clinical setting
    Davison, E. V.
    Deans, Z. C.
    Turnbull, C.
    Henderson, S.
    Baple, E.
    Thomas, E.
    Scott, R.
    Hill, S. L.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 687 - 687
  • [3] Recommendations for whole genome sequencing in diagnostics for rare diseases
    Erika Souche
    Sergi Beltran
    Erwin Brosens
    John W. Belmont
    Magdalena Fossum
    Olaf Riess
    Christian Gilissen
    Amin Ardeshirdavani
    Gunnar Houge
    Marielle van Gijn
    Jill Clayton-Smith
    Matthis Synofzik
    Nicole de Leeuw
    Zandra C. Deans
    Yasemin Dincer
    Sebastian H. Eck
    Saskia van der Crabben
    Meena Balasubramanian
    Holm Graessner
    Marc Sturm
    Helen Firth
    Alessandra Ferlini
    Rima Nabbout
    Elfride De Baere
    Thomas Liehr
    Milan Macek
    Gert Matthijs
    Hans Scheffer
    Peter Bauer
    Helger G. Yntema
    Marjan M. Weiss
    European Journal of Human Genetics, 2022, 30 : 1017 - 1021
  • [4] Recommendations for whole genome sequencing in diagnostics for rare diseases
    Souche, Erika
    Beltran, Sergi
    Brosens, Erwin
    Belmont, John W.
    Fossum, Magdalena
    Riess, Olaf
    Gilissen, Christian
    Ardeshirdavani, Amin
    Houge, Gunnar
    van Gijn, Marielle
    Clayton-Smith, Jill
    Synofzik, Matthis
    de Leeuw, Nicole
    Deans, Zandra C.
    Dincer, Yasemin
    Eck, Sebastian H.
    van eer Crabben, Saskia
    Balasubramanian, Meena
    Graessner, Holm
    Sturm, Marc
    Firth, Helen
    Ferlini, Alessandra
    Nabbout, Rima
    De Baere, Elfride
    Liehr, Thomas
    Macek, Milan
    Matthijs, Gert
    Scheffer, Hans
    Bauer, Peter
    Yntema, Helger G.
    Weiss, Marjan M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (09) : 1017 - 1021
  • [5] Expanding the clinical spectrum of the lysosomal disorders with whole exome sequencing
    Karaa, Amel
    Simas, Alexendra M.
    John, Staropoli
    Glykys, Joseph
    Xin, Winnie
    Cotman, Susan L.
    Sims, Katherine B.
    MOLECULAR GENETICS AND METABOLISM, 2015, 114 (02) : S60 - S60
  • [6] Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases
    Liu, Hong-Yan
    Thou, Liyuan
    Zheng, Meng-Yue
    Huang, Jia
    Wan, Shu
    Zhu, Aiying
    Zhang, Mingjie
    Dong, Anliang
    Hou, Ling
    Li, Jia
    Xu, Haiming
    Lu, Bingjian
    Lu, Weiguo
    Liu, Pengyuan
    Lu, Yan
    SCIENTIFIC REPORTS, 2019, 9 (1)
  • [7] Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases
    Hong-Yan Liu
    Liyuan Zhou
    Meng-Yue Zheng
    Jia Huang
    Shu Wan
    Aiying Zhu
    Mingjie Zhang
    Anliang Dong
    Ling Hou
    Jia Li
    Haiming Xu
    Bingjian Lu
    Weiguo Lu
    Pengyuan Liu
    Yan Lu
    Scientific Reports, 9
  • [8] Added value of clinical whole-genome sequencing: Cooccurring rare diseases and pharmacogenetic profiling
    Caspar, S. M.
    Najafi, A.
    Meienberg, J.
    Schneider, T.
    Henggeler, C.
    Matyas, G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 698 - 698
  • [9] The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis
    Coelho, Antonio Victor Campos
    Mascaro-Cordeiro, Bruna
    Lucon, Danielle Ribeiro
    Nobrega, Maria Soares
    Reis, Rodrigo de Souza
    de Alexandre, Rodrigo Bertollo
    Moura, Livia Maria Silva
    Oliveira, Gustavo Santos de
    Guedes, Rafael Lucas Muniz
    Caraciolo, Marcel Pinheiro
    Zurro, Nuria Bengala
    Cervato, Murilo Castro
    Oliveira, Joao Bosco
    FRONTIERS IN MOLECULAR BIOSCIENCES, 2022, 9
  • [10] Clinical whole exome sequencing in a patient with multiple rare diseases
    Du, Xiaoli
    Ayala, Sofia Saenz
    Han, Jingfen
    Wei, Chao
    Weaver, Kathryn Nicole
    Wu, Yaning
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S138 - S138
12345