A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing

被引:0
|
作者
Abou Tayoun, Ahmad N. [1 ,2 ]
Tunkey, Christopher D. [1 ,2 ]
Tafe, Laura J. [1 ,2 ]
Levandowsky, Elizabeth [3 ]
Spangler, Jessica [3 ]
Dindinger, Matthew [3 ]
Ross, Tristen [3 ]
Shah, Minita [3 ]
McLaughlin, Stephen [3 ]
Lee, Clarence C. [3 ]
Harkins, Timothy T. [3 ]
Raia, Gabrielle [3 ]
Amos, Christopher I. [1 ,2 ]
Wells, Wendy A. [1 ,2 ]
Tsongalis, Gregory J. [1 ,2 ]
机构
[1] DHMC, Lebanon, NH USA
[2] Geisel Sch Med Dartmouth, Lebanon, NH USA
[3] Life Technol Inc, Beverly, MA USA
来源
FASEB JOURNAL | 2013年 / 27卷
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
874.1
引用
收藏
页数:1
相关论文
共 50 条
  • [1] A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing
    Abou Tayoun, Ahmad N.
    Tunkey, Christopher D.
    Pugh, Trevor J.
    Ross, Tristen
    Shah, Minita
    Lee, Clarence C.
    Harkins, Timothy T.
    Wells, Wendy A.
    Tafe, Laura J.
    Amos, Christopher I.
    Tsongalis, Gregory J.
    [J]. CLINICAL CHEMISTRY, 2013, 59 (10) : 1481 - 1488
  • [2] Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing
    Carlos Ruiz-Cabezas, Juan
    Barros, Francisco
    Sobrino, Beatriz
    Garcia, Gustavo
    Burgos, Ramiro
    Farhat, Carlos
    Castro, Antonella
    Munoz, Lenin
    Karina Zambrano, Ana
    Martinez, Mariela
    Montalvan, Martha
    Paz-y-Mino, Cesar
    [J]. GENE, 2019, 696 : 28 - 32
  • [3] Comprehensive Detection of CFTR Variants Using Anchored Multiplex PCR and Next-Generation Sequencing
    Hardison, M. T.
    Moore, K. E.
    Roberts, P. G.
    Griffin, L. M.
    Walters, R. D.
    Culver, B. P.
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2017, 19 (06): : 954 - 954
  • [4] Comprehensive detection of CFTR variants using anchored multiplex PCR and next-generation sequencing
    Hardison, M.
    Moore, K.
    Roberts, P.
    Griffin, L.
    Walters, R.
    Culver, B.
    [J]. VIRCHOWS ARCHIV, 2017, 471 : S229 - S229
  • [5] A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa
    Lucky, Anne W.
    Dagaonkar, Neha
    Lammers, Karen
    Husami, Ammar
    Kissell, Diane
    Zhang, Kejian
    [J]. PEDIATRIC DERMATOLOGY, 2018, 35 (02) : 188 - 197
  • [6] Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR
    Trujillano, Daniel
    Weiss, Maximilian E. R.
    Koester, Julia
    Papachristos, Efstathios B.
    Werber, Martin
    Kandaswamy, Krishna Kumar
    Marais, Anett
    Eichler, Sabrina
    Creed, Jenny
    Baysal, Erol
    Jaber, Iqbal Yousuf
    Mehaney, Dina Ahmed
    Farra, Chantal
    Rolfs, Arndt
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2015, 3 (05): : 396 - 403
  • [7] Resolving Discrepancies in Idylla BRAF Mutational Assay Results Using Targeted Next-Generation Sequencing
    George, Giby V.
    Liu, Huijie
    Jajosky, Audrey N.
    Oltvai, Zoltan N.
    [J]. GENES, 2024, 15 (05)
  • [8] Mutational analysis using next-generation sequencing in sporadic and familial congenital heart disease
    Pulignani, S.
    Vecoli, C.
    Borghini, A.
    Foffa, I.
    Ait-Ali, L.
    Andreassi, M. G.
    [J]. EUROPEAN HEART JOURNAL, 2016, 37 : 1243 - 1243
  • [9] CEBPA mutational analysis in acute myeloid leukaemia by a laboratory-developed next-generation sequencing assay
    Ng, Christopher Wai Siong
    Kosmo, Bustamin
    Lee, Peak-Ling
    Lee, Chun Kiat
    Guo, Jingxue
    Chen, Zhaojin
    Chiu, Lily
    Lee, Hong Kai
    Ho, Sherry
    Zhou, Jianbiao
    Lin, Mingxuan
    Tan, Karen M. L.
    Ban, Kenneth H. K.
    Tan, Tin Wee
    Chng, Wee Joo
    Yan, Benedict
    [J]. JOURNAL OF CLINICAL PATHOLOGY, 2018, 71 (06) : 522 - 531
  • [10] Comprehensive Fungal Community Analysis of House Dust Using Next-Generation Sequencing
    Izawa, Kazuki
    Kubosaki, Atsutaka
    Kobayashi, Naoki
    Akiyama, Yutaka
    Yamazaki, Akiko
    Hashimoto, Kazuhiro
    Konuma, Rumi
    Kamata, Yoichi
    Hara-Kudo, Yukiko
    Hasegawa, Kenichi
    Ikaga, Toshiharu
    Watanabe, Maiko
    [J]. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2020, 17 (16) : 1 - 11