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
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2010年 / 51卷 / 13期
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
  • [1] Next Generation Sequencing Mutation Detection Compared to Pyrosequencing
    Sutton, K. M.
    Witham, J.
    Chambers, P.
    Taylor, G. R.
    Quirke, P.
    JOURNAL OF PATHOLOGY, 2012, 228 : S15 - S15
  • [2] NEXT GENERATION SEQUENCING APPLICATIONS FOR MUTATION DETECTION IN EB
    Uitto, Jouni
    ACTA DERMATO-VENEREOLOGICA, 2020, 100 : 12 - 12
  • [3] A Next Generation Sequencing Approach to Mutation Detection in Normal Mucosa
    Sutton, K. M.
    Richman, S. D.
    Taylor, G. R.
    Quirke, P.
    JOURNAL OF PATHOLOGY, 2013, 229 : S13 - S13
  • [4] Mutation Detection in Melanoma by Next-generation Sequencing Cancer Mutation Panel
    Dean, C. L.
    Maier, C. L.
    Schneider, T. M.
    Hill, C. E.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 816 - 816
  • [5] A statistical approach to mutation detection in zebrafish with next-generation sequencing
    Mackay, E. W.
    Schulte-Merker, S.
    JOURNAL OF APPLIED ICHTHYOLOGY, 2014, 30 (04) : 696 - 700
  • [6] NEXT GENERATION SEQUENCING DETECTION OF LATE ONSET POMPE DISEASE
    Angelini, Corrado
    Savarese, Marco
    Fanin, Marina
    Nigro, Vincenzo
    MUSCLE & NERVE, 2016, 53 (06) : 981 - 983
  • [7] DETECTION OF HLA DPB1 MUTATION IN A FAMILY BY NEXT GENERATION SEQUENCING
    Sanchez, Ayrton
    Pham, Dinh N.
    Nikaein, Afzal
    HUMAN IMMUNOLOGY, 2019, 80 : 62 - 62
  • [8] Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing
    Ferbo, Ludovica
    Manzini, Paola M.
    Badar, Sadaf
    Campostrini, Natascia
    Ferrarini, Alberto
    Delledonne, Massimo
    Francisci, Tiziana
    Tassi, Valter
    Valfre, Adriano
    Dall'Omo, Anna M.
    D'Antico, Sergio
    Girelli, Domenico
    Roetto, Antonella
    De Gobbi, Marco
    BLOOD TRANSFUSION, 2016, 14 (06) : 531 - 534
  • [9] ESTABLISHMENT OF A PIPELINE FOR IMPROVED MUTATION DETECTION USING A NEXT GENERATION SEQUENCING APPROACH
    Salzer, E.
    Schwendinger, M.
    Santos-Valente, E.
    Ott, R.
    Boztug, K.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 183 - 183
  • [10] Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
    Weisschuh, Nicole
    Mayer, Anja K.
    Strom, Tim M.
    Kohl, Susanne
    Gloeckle, Nicola
    Schubach, Max
    Andreasson, Sten
    Bernd, Antje
    Birch, David G.
    Hamel, Christian P.
    Heckenlively, John R.
    Jacobson, Samuel G.
    Kamme, Christina
    Kellner, Ulrich
    Kunstmann, Erdmute
    Maffei, Pietro
    Reiff, Charlotte M.
    Rohrschneider, Klaus
    Rosenberg, Thomas
    Rudolph, Guenther
    Vamos, Rita
    Varsanyi, Balazs
    Weleber, Richard G.
    Wissinger, Bernd
    PLOS ONE, 2016, 11 (01):
12345