Case study: the key role of whole-genome sequencing (WGS) in the diagnostics of kidney disorders

被引:0
|
作者
Staykova, Slavyana [1 ]
Atanasoska, Maya [1 ,2 ]
Balabanski, Lubomir [1 ]
Bradinova, Irena [1 ]
Gaydarova, Maria [3 ]
Toncheva, Draga [1 ]
Vazharova, Radoslava [1 ,4 ]
机构
[1] Cellgenet Lab, Sofia, Bulgaria
[2] Sofia Univ St Kliment Ohridski, Dept Genet, Fac Biol, Sofia, Bulgaria
[3] Pediat Hosp Prof Dr Ivan Mitev, Sofia, Bulgaria
[4] Sofia Univ St Kliment Ohridski, Dept Biol Med Genet & Microbiol, Fac Med, Sofia, Bulgaria
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
EP04.011
引用
收藏
页码:128 / 128
页数:1
相关论文
共 50 条
  • [21] Clinical whole-genome sequencing
    Orli G. Bahcall
    Nature Reviews Genetics, 2015, 16 (7) : 377 - 377
  • [22] Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study
    Chi, Ching-Shiang
    Tsai, Chi-Ren
    Lee, Hsiu-Fen
    ARCHIVES OF DISEASE IN CHILDHOOD, 2024, 109 (09) : 730 - 735
  • [23] Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice
    Samsom, Kris G.
    Bosch, Linda J. W.
    Schipper, Luuk J.
    Schout, Daoin
    Roepman, Paul
    Boelens, Mirjam C.
    Lalezari, Ferry
    Klompenhouwer, Elisabeth G.
    de Langen, Adrianus J.
    Buffart, Tineke E.
    van Linder, Berit M. H.
    van Deventer, Kelly
    van den Burg, Kay
    Unmehopa, Unga
    Rosenberg, Efraim H.
    Koster, Roelof
    Hogervorst, Frans B. L.
    van den Berg, Jose G.
    Riethorst, Immy
    Schoenmaker, Lieke
    van Beek, Daphne
    de Bruijn, Ewart
    van der Hoeven, Jacobus J. M.
    van Snellenberg, Hans
    van der Kolk, Lizet E.
    Cuppen, Edwin
    Voest, Emile E.
    Meijer, Gerrit A.
    Monkhorst, Kim
    NATURE PROTOCOLS, 2024, 19 (03) : 700 - 726
  • [24] Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics
    Yu, Yongguo
    Wu, Bai-lin
    Wu, Jie
    Shen, Yiping
    CLINICAL CHEMISTRY, 2012, 58 (11) : 1507 - 1509
  • [25] Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice
    Kris G. Samsom
    Linda J. W. Bosch
    Luuk J. Schipper
    Daoin Schout
    Paul Roepman
    Mirjam C. Boelens
    Ferry Lalezari
    Elisabeth G. Klompenhouwer
    Adrianus J. de Langen
    Tineke E. Buffart
    Berit M. H. van Linder
    Kelly van Deventer
    Kay van den Burg
    Unga Unmehopa
    Efraim H. Rosenberg
    Roelof Koster
    Frans B. L. Hogervorst
    José G. van den Berg
    Immy Riethorst
    Lieke Schoenmaker
    Daphne van Beek
    Ewart de Bruijn
    Jacobus J. M. van der Hoeven
    Hans van Snellenberg
    Lizet E. van der Kolk
    Edwin Cuppen
    Emile E. Voest
    Gerrit A. Meijer
    Kim Monkhorst
    Nature Protocols, 2024, 19 : 700 - 726
  • [26] Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders
    Jacob-Hirsch, Jasmine
    Eyal, Eran
    Knisbacher, Binyamin A.
    Roth, Jonathan
    Cesarkas, Karen
    Dor, Chen
    Farage-Barhom, Sarit
    Kunik, Vered
    Simon, Amos J.
    Gal, Moran
    Yalon, Michal
    Moshitch-Moshkovitz, Sharon
    Tearle, Rick
    Constantini, Shlomi
    Levanon, Erez Y.
    Amariglio, Ninette
    Rechavi, Gideon
    CELL RESEARCH, 2018, 28 (02) : 187 - 203
  • [27] Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders
    Jasmine Jacob-Hirsch
    Eran Eyal
    Binyamin A Knisbacher
    Jonathan Roth
    Karen Cesarkas
    Chen Dor
    Sarit Farage-Barhom
    Vered Kunik
    Amos J Simon
    Moran Gal
    Michal Yalon
    Sharon Moshitch-Moshkovitz
    Rick Tearle
    Shlomi Constantini
    Erez Y Levanon
    Ninette Amariglio
    Gideon Rechavi
    Cell Research, 2018, 28 : 187 - 203
  • [28] Defining the genetic basis of everolimus sensitivity in metastatic bladder cancer (MBC) by whole-genome sequencing (WGS)
    Iyer, Gopa
    Milowsky, Matthew I.
    Al-Ahmadie, Hikmat
    Hanrahan, Aphrothiti
    Janakiraman, Manickam
    Heguy, Adriana
    Viale, Agnes
    Socci, Nicholas D.
    Sander, Chris
    Bochner, Bernard
    Bajorin, Dean F.
    Berger, Michael F.
    Taylor, Barry S.
    Solit, David B.
    JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (15)
  • [29] Digital-WGS: Automated, highly efficient whole-genome sequencing of single cells by digital microfluidics
    Ruan, Qingyu
    Ruan, Weidong
    Lin, Xiaoye
    Wang, Yang
    Zou, Fenxiang
    Zhou, Leiji
    Zhu, Zhi
    Yang, Chaoyong
    SCIENCE ADVANCES, 2020, 6 (50)
  • [30] Whole-genome sequencing of Neisseria gonorrhoeae in a forensic transmission case
    Frances-Cuesta, Carlos
    de la Caba, Idoia
    Idigoras, Pedro
    Fernandez-Rodriguez, Amparo
    del Valle Perez, David
    Maria Marimon, Jose
    Gonzalez-Candelas, Fernando
    FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2019, 42 : 141 - 146