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
  • [21] Clinical whole-exome sequencing for the diagnosis of Mendelian neuromuscular disorders
    Krenn, M.
    Rath, J.
    Zulehner, G.
    Wagner, M.
    Strom, T-M.
    Stoegmann, E.
    Zimprich, F.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 549 - 549
  • [22] Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing
    Li, Xingyong
    Yao, Yinghao
    Xing, Shilai
    Ma, Siwen
    Pang, Shuaiyue
    Zhou, Yang
    Chen, Shihao
    MOLECULAR VISION, 2025, 31 : 23 - 32
  • [23] Trio-based whole-exome sequencing reveals mutations in early-onset high myopia
    Ye, Lu
    Guo, Yi-Ming
    Cai, Yi-Xin
    Wei, Junhan
    Huang, Juan
    Bi, Jiejing
    Chen, Ding
    Li, Fen-Fen
    Huang, Xiu-Feng
    BMJ OPEN OPHTHALMOLOGY, 2024, 9 (01):
  • [24] Whole exome sequencing of suspected mitochondrial patients in clinical practice
    Wortmann, Saskia B.
    Koolen, DavidA.
    Smeitink, Jan A.
    van den Heuvel, Lambert
    Rodenburg, Richard J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (03) : 437 - 443
  • [25] Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
    Prada, Carlos E.
    Gonzaga-Jauregui, Claudia
    Tannenbaum, Rebecca
    Penney, Samantha
    Lupski, James R.
    Hopkin, Robert J.
    Sutton, V. Reid
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (07) : 339 - 344
  • [26] The Clinical Utility of Clinical Whole Exome Sequencing
    Tumer, S. A.
    Steinmetz, H. B.
    Dinulos, M. P.
    Moeschler, J. B.
    Vallee, S. E.
    Upton, S. J.
    Tafe, L. J.
    Chen, R.
    Garcia, S.
    Church, D.
    Tirch, J.
    Huang, A.
    Lefferts, J. A.
    Tsongalis, G. J.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (06): : 706 - 706
  • [27] Detection of copy number variations in rare Mendelian disorders using whole exome sequencing
    Sousa, Susana
    Silva, Paulo
    Barbosa, Susana
    Lopes, Ana
    Brandao, Ana Filipa
    Arinto, Patricia
    Morais, Sara
    Alonso, Isabel
    Sequeiros, Jorge
    MEDICINE, 2019, 98 (26)
  • [28] Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
    Carneiro, Thaise N. R.
    Krepischi, Ana C. V.
    Costa, Silvia S.
    da Silva, Israel Tojal
    Vianna-Morgante, Angela M.
    Valieris, Renan
    Ezquina, Suzana A. M.
    Bertola, Debora R.
    Otto, Paulo A.
    Rosenberg, Carla
    APPLICATION OF CLINICAL GENETICS, 2018, 11 : 93 - 98
  • [29] Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders
    Lan, Xiaoping
    Tang, Xiaojun
    Weng, Wenhao
    Xu, Wuhen
    Song, Xiaozhen
    Yang, Yongchen
    Sun, Hong
    Ye, Haiyun
    Zhang, Hong
    Yu, Guangjun
    Wu, Shengnan
    JAMA NETWORK OPEN, 2025, 8 (03)
  • [30] Trio-based Exome Sequencing Provides a Comprehensive and Dynamic Approach to Genetic Testing for Leukodystrophy
    Zou, F.
    Zack, T.
    Downtain, C.
    Zamora, F.
    Retterer, K.
    Scuffins, J.
    McKnight, D.
    ANNALS OF NEUROLOGY, 2018, 84 : S309 - S309