Amplification-Free Targeted Enrichment Powered by CRISPR-Cas9 and Long-Read Single Molecule Real-Time Sequencing Can Efficiently and Accurately Sequence Challenging Repeat Expansion Disorders

被引:0
|
作者
Ekholm, J. [1 ]
Tsai, Y. [1 ]
McLaughlin, I. [1 ]
Hon, T. [1 ]
Ziegle, J. [1 ]
机构
[1] Pacific Biosci, Menlo Pk, CA USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2020年 / 22卷 / 11期
关键词
D O I
暂无
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
G17
引用
收藏
页码:S6 / S6
页数:1
相关论文
共 10 条
  • [1] Amplification-free, CRISPR-Cas9 targeted enrichment and SMRT Sequencing of repeat-expansion disease causative genomic regions
    Ekholm, J.
    Tsai, Y.
    Hon, T.
    Bowman, B.
    Ziegle, J.
    Schule, B.
    Ashizawa, T.
    McFarland, K.
    Clark, T.
    Vogelsang, R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 848 - 848
  • [2] Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
    Ida Höijer
    Josefin Johansson
    Sanna Gudmundsson
    Chen-Shan Chin
    Ignas Bunikis
    Susana Häggqvist
    Anastasia Emmanouilidou
    Maria Wilbe
    Marcel den Hoed
    Marie-Louise Bondeson
    Lars Feuk
    Ulf Gyllensten
    Adam Ameur
    Genome Biology, 21
  • [3] Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
    Hoijer, Ida
    Johansson, Josefin
    Gudmundsson, Sanna
    Chin, Chen-Shan
    Bunikis, Ignas
    Haggqvist, Susana
    Emmanouilidou, Anastasia
    Wilbe, Maria
    den Hoed, Marcel
    Bondeson, Marie-Louise
    Feuk, Lars
    Gyllensten, Ulf
    Ameur, Adam
    GENOME BIOLOGY, 2020, 21 (01)
  • [4] Comparative analysis of CRISPR/Cas9-targeted Nanopore long-read sequencing approaches in repeat expansion disorders
    Bonne, G.
    Benarroch, L.
    Boelle, P.
    Labreche, K.
    Madry, H.
    Mohand-Oumoussa, B.
    Eura, N.
    Nishino, I.
    Gourdon, G.
    Tome, S.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [5] CRISPR/Cas9-targeted single molecule long-read sequencing reveals allelic microheterogeneity of triplet repeat expansion in oculopharyngodistal myopathy
    Eura, N.
    Noguchi, S.
    Ogasawara, M.
    Iida, A.
    Hayashi, S.
    Nishino, I.
    NEUROMUSCULAR DISORDERS, 2022, 32 : S111 - S111
  • [6] CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
    Hafford-Tear, Nathaniel J.
    Tsai, Yu-Chih
    Sadan, Amanda N.
    Sanchez-Pintado, Beatriz
    Zarouchlioti, Christina
    Maher, Geoffrey J.
    Liskova, Petra
    Tuft, Stephen J.
    Hardcastle, Alison J.
    Clark, Tyson A.
    Davidson, Alice E.
    GENETICS IN MEDICINE, 2019, 21 (09) : 2092 - 2102
  • [7] CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
    Davidson, Alice E.
    Tear, Nathaniel J. Hafford
    Tsai, Yu-Chih
    Sadan, Amanda
    Sanchez-Pintado, Beatriz
    Zarouchlioti, Christina
    Liskova, Petra
    Tuft, Stephen J.
    Clark, Tyson A.
    Hardcastle, Alison J.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [8] CRISPR/Cas9-targeted enrichment and long-read sequencing of a non-coding corneal dystrophy-associated TCF4 triplet repeat
    Hafford-Tear, N. J.
    Tsai, Y.
    Sadan, A. N.
    Sanchez-Pintado, B.
    Zarouchlioti, C.
    Maher, G. J.
    Liskova, P.
    Tuft, S. J.
    Hardcastle, A. J.
    Clark, T. A.
    Davidson, A. E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1639 - 1639
  • [9] Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion
    Jennifer Reiner
    Laura Pisani
    Wanqiong Qiao
    Ram Singh
    Yao Yang
    Lisong Shi
    Wahab A. Khan
    Robert Sebra
    Ninette Cohen
    Arvind Babu
    Lisa Edelmann
    Ethylin Wang Jabs
    Stuart A. Scott
    npj Genomic Medicine, 3
  • [10] Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion
    Reiner, Jennifer
    Pisani, Laura
    Qiao, Wanqiong
    Singh, Ram
    Yang, Yao
    Shi, Lisong
    Khan, Wahab A.
    Sebra, Robert
    Cohen, Ninette
    Babu, Arvind
    Edelmann, Lisa
    Jabs, Ethylin Wang
    Scott, Stuart A.
    NPJ GENOMIC MEDICINE, 2018, 3