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
  • [31] Diagnostic utility of whole-exome sequencing in Iranian patients suspected with Joubert Syndrome
    Karamzade, Arezou
    Babaei, Meisam
    Golchin, Neda
    Talebi, Saeed
    Banaei, Aysun Khalil Nejad Sani
    Keramatipour, Mohammad
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1123 - 1124
  • [32] Clinical utility of Mendeliome sequencing with respect to whole exome sequencing
    Zollino, M.
    Frangella, S.
    Doronzio, P. N.
    Maietta, S.
    Orteschi, D.
    Amenta, S.
    Ricciardi, S.
    Masini, L.
    De Santis, M.
    Vento, G.
    Manfredi, R.
    Nigro, V.
    Pinelli, M.
    Marangi, G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 628 - 628
  • [33] Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
    Kim, Min-Jee
    Yum, Mi-Sun
    Seo, Go Hun
    Lee, Yena
    Jang, Han Na
    Ko, Tae-Sung
    Lee, Beom Hee
    JOURNAL OF CLINICAL MEDICINE, 2020, 9 (11) : 1 - 14
  • [34] Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders
    Ouyang, Xuejun
    Zhang, Yu
    Zhang, Lijuan
    Luo, Jixuan
    Zhang, Ting
    Hu, Hui
    Liu, Lin
    Zhong, Lieqiang
    Zeng, Shaoying
    Xu, Pingyi
    Bai, Zhenjiang
    Wong, Lee-Jun
    Wang, Jing
    Wang, Chunli
    Wang, Bin
    Zhang, Victor Wei
    FRONTIERS IN GENETICS, 2021, 12
  • [35] Clinical Utility of Whole Genome Sequencing for Undiagnosed Rare Genetic Disorders
    Awan, Muhammad Qasim
    JOURNAL OF THE LIAQUAT UNIVERSITY OF MEDICAL AND HEALTH SCIENCES, 2021, 20 (01): : 1 - 2
  • [36] Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
    Normand, Elizabeth A.
    Braxton, Alicia
    Nassef, Salma
    Ward, Patricia A.
    Vetrini, Francesco
    He, Weimin
    Patel, Vipulkumar
    Qu, Chunjing
    Westerfield, Lauren E.
    Stover, Samantha
    Dharmadhikari, Avinash V.
    Muzny, Donna M.
    Gibbs, Richard A.
    Dai, Hongzheng
    Meng, Linyan
    Wang, Xia
    Xiao, Rui
    Liu, Pengfei
    Bi, Weimin
    Xia, Fan
    Walkiewicz, Magdalena
    Van den Veyver, Ignatia B.
    Eng, Christine M.
    Yang, Yaping
    GENOME MEDICINE, 2018, 10
  • [37] Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
    Elizabeth A. Normand
    Alicia Braxton
    Salma Nassef
    Patricia A. Ward
    Francesco Vetrini
    Weimin He
    Vipulkumar Patel
    Chunjing Qu
    Lauren E. Westerfield
    Samantha Stover
    Avinash V. Dharmadhikari
    Donna M. Muzny
    Richard A. Gibbs
    Hongzheng Dai
    Linyan Meng
    Xia Wang
    Rui Xiao
    Pengfei Liu
    Weimin Bi
    Fan Xia
    Magdalena Walkiewicz
    Ignatia B. Van den Veyver
    Christine M. Eng
    Yaping Yang
    Genome Medicine, 10
  • [38] Identification of new candidate genes for thyroid eye disease using trio-based exome sequencing
    Pang, Calvin
    Lai, Kenneth
    Xia, Xiaoxuan
    Chen, Wan
    Wei, Yingying
    Chen, Li
    Kam-Lung, Kelvin
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [39] THE UTILITY OF WHOLE EXOME SEQUENCING IN DIAGNOSING PEDIATRIC NEUROLOGICAL DISORDERS
    Muthaffar, O. Y.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2020, 23 (02) : 17 - 23
  • [40] Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
    Alejandro J. Brea-Fernández
    Miriam Álvarez-Barona
    Jorge Amigo
    María Tubío-Fungueiriño
    Pilar Caamaño
    Montserrat Fernández-Prieto
    Francisco Barros
    Silvia De Rubeis
    Joseph Buxbaum
    Ángel Carracedo
    European Journal of Human Genetics, 2022, 30 : 938 - 945