Efficiency and clinical utility of trio-based whole exome sequencing in patients with suspected rare mendelian disorders

被引:0
|
作者
Von Hardenberg, Sandra [1 ]
Schmidt, Gunnar [1 ]
Richter, Manuela [2 ]
Wallaschek, Hannah [1 ]
Schlegelberger, Brigitte [1 ]
Jacobi, Christoph [3 ]
von Gise, Alexander [4 ]
Auber, Bernd [1 ]
机构
[1] Hannover Med Sch, Dept Human Genet, Hannover, Germany
[2] Childrens & Youth Hosp Bult, Dept Neonatol, Hannover, Germany
[3] Hannover Med Sch, Dept Pediat Pulmonol & Neonatol, Hannover, Germany
[4] Hannover Med Sch, Dept Pediat Cardiol & Intens Care Med, Hannover, Germany
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
P17.019.A
引用
收藏
页码:595 / 595
页数:1
相关论文
共 50 条
  • [1] Trio-based whole exome sequencing in patients with ectopic posterior pituitary
    Lyra, Arthur
    Rodart, Itatiana Ferreira
    Barros, Lara
    Silva, Tatiane Sousa e
    da Rocha, Antonio Jose
    Kochi, Cristiane
    Longui, Carlos Alberto
    FRONTIERS IN PEDIATRICS, 2024, 12
  • [2] The clinical benefit of trio-based whole-exome sequencing for the detection of rare pathogenic sequence variants in paediatric patients with undiagnosed neurodevelopmental disorders
    Wayhelova, Marketa
    Vallova, Vladimira
    Smetana, Jan
    Broz, Petr
    Mikulasova, Aneta
    Gaillyova, Renata
    Kuglik, Petr
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 447 - 447
  • [3] Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
    Hebert, Anne
    Simons, Annet
    Schuurs-Hoeijmakers, Janneke H. M.
    Koenen, Hans J. P. M.
    Zonneveld-Huijssoon, Evelien
    Henriet, Stefanie S., V
    Schatorje, Ellen J. H.
    Hoppenreijs, Esther P. A. H.
    Leenders, Erika K. S. M.
    Janssen, Etienne J. M.
    Santen, Gijs W. E.
    de Munnik, Sonja A.
    van Reijmersdal, Simon, V
    van Rijssen, Esther
    Kersten, Simone
    Netea, Mihai G.
    Smeets, Ruben L.
    van de Veerdonk, Frank L.
    Hoischen, Alexander
    van der Made, Caspar, I
    ELIFE, 2022, 11
  • [4] Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus
    Li, Xingyong
    Yao, Yinghao
    Xing, Shilai
    Zheng, Yi-Han
    Zhou, Yang
    Yu, Xiaoguang
    Su, Jianzhong
    Chen, Shihao
    Jin, Zi-Bing
    EXPERIMENTAL EYE RESEARCH, 2024, 248
  • [5] Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy
    Lin, Zhi-Jian
    Li, Bin
    Lin, Peng-Xing
    Song, Wang
    Yan, Li -Min
    Meng, Heng
    He, Na
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2024, 116 : 24 - 29
  • [6] Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system
    Yang, Yang
    Wang, Min
    Wang, Hao
    MOLECULAR GENETICS AND GENOMICS, 2022, 297 (04) : 1017 - 1026
  • [7] Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system
    Yang Yang
    Min Wang
    Hao Wang
    Molecular Genetics and Genomics, 2022, 297 : 1017 - 1026
  • [8] Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
    Huifang Yan
    Haoran Ji
    Thomas Kubisiak
    Ye Wu
    Jiangxi Xiao
    Qiang Gu
    Yanling Yang
    Han Xie
    Taoyun Ji
    Kai Gao
    Dongxiao Li
    Hui Xiong
    Zhen Shi
    Ming Li
    Yuehua Zhang
    Ruoyu Duan
    Xinhua Bao
    Yuwu Jiang
    Margit Burmeister
    Jingmin Wang
    Journal of Human Genetics, 2021, 66 : 761 - 768
  • [9] Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
    Yan, Huifang
    Ji, Haoran
    Kubisiak, Thomas
    Wu, Ye
    Xiao, Jiangxi
    Gu, Qiang
    Yang, Yanling
    Xie, Han
    Ji, Taoyun
    Gao, Kai
    Li, Dongxiao
    Xiong, Hui
    Shi, Zhen
    Li, Ming
    Zhang, Yuehua
    Duan, Ruoyu
    Bao, Xinhua
    Jiang, Yuwu
    Burmeister, Margit
    Wang, Jingmin
    JOURNAL OF HUMAN GENETICS, 2021, 66 (08) : 761 - 768
  • [10] The elucidation of the intrafamilial phenotypic heterogeneity of neurodevelopmental disorders by trio-based exome sequencing
    Wayhelova, Marketa
    Vallova, Vladimira
    Smetana, Jan
    Broz, Petr
    Mikulasova, Aneta
    Machackova, Dominika
    Gaillyova, Renata
    Kuglik, Petr
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 177 - 177