Disease Mutation Detection by Next Generation Sequencing

被引:0
|
作者
Chen, R. [1 ]
Wang, H. [2 ]
Zhang, K. [3 ]
Lewis, R. A. [4 ]
Lupski, J. R. [1 ]
Mardon, G. [5 ]
Gibbs, R. A. [1 ]
机构
[1] Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[3] Univ Calif San Diego, Dept Bioengn, La Jolla, CA 92093 USA
[4] Baylor Coll Med, Ophthalmol, Houston, TX 77030 USA
[5] Baylor Coll Med, Pathol Mol & Human Genet, Houston, TX 77030 USA
关键词
gene mapping; retina; genetics;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
6355
引用
收藏
页数:2
相关论文
共 50 条
  • [41] Detection of BRAF Mutation in Lung Adenocarcinoma by Next-Generation Sequencing: Beyond V600E Mutation
    Salimian, Kevan
    Fazeli, Roghayeh
    Zheng, Gang
    Maleki, Zahra
    LABORATORY INVESTIGATION, 2016, 96 : 482A - 482A
  • [42] Next generation sequencing for germline mutation analysis in patients with neurofibromatosis
    Pencheva, Daniela
    Kamenarova, Kunka
    Mihova, Kalina
    Dimova, Ivanka
    Mitev, Vanio
    Kaneva, Radka
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 415 - 415
  • [43] Mutation Profiling in Human Cancer Using Next Generation Sequencing
    Wheeler, D. A.
    ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, 2010, 51 (07) : 691 - 691
  • [44] Germline Mutation Screening: Conventional or Next-Generation Sequencing?
    Kwong, Ava
    Au, Tommy
    Law, Fian
    Ho, Dona
    Ip, Beca
    Wong, Anthony
    Shin, Vivian
    Chan, Chris
    Ma, Edmond
    ANNALS OF SURGICAL ONCOLOGY, 2014, 21 : 71 - 72
  • [45] Targeted next generation sequencing for the evaluation of tumor mutation burden
    Fenizia, Francesca
    Pasquale, Raffaella
    Roma, Cristin
    Bergantino, Francesca
    Chicchinelli, Nicoletta
    Graziano, Paolo
    Botti, Gerardo
    Tatangelo, Fabiana
    Scognamiglio, Giosue
    Lambiase, Matilde
    Iannaccone, Alessia
    Normanno, Nicola
    JOURNAL OF TRANSLATIONAL MEDICINE, 2019, 17
  • [46] Targeted next generation sequencing is comparable with metagenomic next generation sequencing in adults with pneumonia for pathogenic microorganism detection
    Li, Shiying
    Tong, Jin
    Liu, Yi
    Shen, Wei
    Hu, Peng
    JOURNAL OF INFECTION, 2022, 85 (05) : E127 - E129
  • [47] Viral genome sequencing and small RNA detection by next generation sequencing
    Siegrist, F.
    Otten-Hernandez, P.
    Thomas, Y.
    Farinelli, L.
    Kaiser, L.
    Tapparel, C.
    CYTOKINE, 2012, 59 (03) : 565 - 565
  • [48] A High Mutation Frequency Allows for Detection of Endometrial Cancer in Brush Cytology Specimens By Next Generation Sequencing
    Kerr, Sarah
    Voss, Jesse
    Wang, Chen
    Podratz, Karl
    Kroneman, Trynda
    Barr-Fritcher, Emily
    Halling, Kevin
    Bakkum-Gamez, Jamie
    Kipp, Benjamin
    MODERN PATHOLOGY, 2015, 28 : 517A - 518A
  • [49] The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment
    Gurtler, Nicolas
    Rothlisberger, Benno
    Ludin, Katja
    Schlegel, Christoph
    Lalwani, Anil K.
    OTOLOGY & NEUROTOLOGY, 2017, 38 (06) : 900 - 903
  • [50] NEXT-GENERATION SEQUENCING OF PLASMA SAMPLES FOR THE DETECTION OF EGFR T790M MUTATION
    Kim, Cheol Hyeon
    Kim, Seo Yun
    Kim, Hye-Ryoun
    CHEST, 2023, 164 (04) : 4173A - 4173A