The applicability of targeted capture and massively parallel sequencing in preimplantation genetic diagnosis for monogenic diseases

被引:0
|
作者
Du, Y. T. [1 ]
Li, J. [2 ]
Zhang, X. D. [2 ]
Li, J. L. [2 ]
Liu, S. J. [2 ]
Xu, Y. W. [3 ]
Vajta, G. [4 ]
Ye, M. L. [2 ]
Zhen, H. F. [2 ]
Shen, X. T. [3 ]
Wang, J. [3 ]
Zeng, Y. H. [3 ]
Chen, S. P. [1 ]
Wang, W. [1 ]
Zhou, C. Q. [3 ]
机构
[1] BGI, Healthcare, Shenzhen, Peoples R China
[2] BGI, Sci & Technol, Shenzhen, Peoples R China
[3] Sun Yat Sen Univ, Affiliated Hosp 1, Guangzhou 510275, Guangdong, Peoples R China
[4] Cent Queensland Univ, Rockhampton, Qld 4702, Australia
关键词
D O I
暂无
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
P-428
引用
收藏
页码:295 / 295
页数:1
相关论文
共 50 条
  • [41] Clinical massively parallel sequencing for the diagnosis of myopathies
    Gorokhova, S.
    Biancalana, V.
    Levy, N.
    Laporte, J.
    Bartoli, M.
    Krahn, M.
    REVUE NEUROLOGIQUE, 2015, 171 (6-7) : 558 - 571
  • [42] Prenatal genetic diagnosis of monogenic diseases
    Prior-de Castro, Carmen
    Gomez-Gonzalez, Clara
    Rodriguez-Lopez, Raquel
    Macher, Hada C.
    ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO, 2023, 4 (01): : 28 - 39
  • [43] Targeted bisulfite sequencing by solution hybrid selection and massively parallel sequencing
    Lee, Eun-Joon
    Pei, Lirong
    Srivastava, Gyan
    Joshi, Trupti
    Kushwaha, Garima
    Choi, Jeong-Hyeon
    Robertson, Keith D.
    Wang, Xinguo
    Colbourne, John K.
    Zhang, Lu
    Schroth, Gary P.
    Xu, Dong
    Zhang, Kun
    Shi, Huidong
    NUCLEIC ACIDS RESEARCH, 2011, 39 (19)
  • [44] VALIDATION OF PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISORDERS (PGT-M) USING TARGETED NEXT GENERATION SEQUENCING
    Guo, Vanessa
    Cheng, Michael
    Ma, Li
    Czyrsznic, Anna
    Capalbo, Antonio
    Jalas, Chaim
    Tao, Xin
    FERTILITY AND STERILITY, 2023, 120 (04) : E50 - E51
  • [45] Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
    Brownstein, Zippora
    Abu-Rayyan, Amal
    Karfunkel-Doron, Daphne
    Sirigu, Serena
    Davidov, Bella
    Shohat, Mordechai
    Frydman, Moshe
    Houdusse, Anne
    Kanaan, Moien
    Avraham, Karen B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (06) : 768 - 775
  • [46] Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
    Zippora Brownstein
    Amal Abu-Rayyan
    Daphne Karfunkel-Doron
    Serena Sirigu
    Bella Davidov
    Mordechai Shohat
    Moshe Frydman
    Anne Houdusse
    Moien Kanaan
    Karen B Avraham
    European Journal of Human Genetics, 2014, 22 : 768 - 775
  • [47] THE PREIMPLANTATION GENETIC DIAGNOSIS OF GENETIC-DISEASES
    VERLINSKY, Y
    PERGAMENT, E
    STROM, C
    JOURNAL OF IN VITRO FERTILIZATION AND EMBRYO TRANSFER, 1990, 7 (01): : 1 - 5
  • [48] PREIMPLANTATION GENETIC SCREENING BY MASSIVELY PARALLEL SEQUENCING ON A MISEQ USING TRANSPOSASE-BASED LIBRARY PREPARATION.
    Kaper, F.
    Royce, T.
    Klotzle, B.
    Lee, X.
    Wu, L.
    Zhang, Z.
    FERTILITY AND STERILITY, 2013, 100 (03) : S197 - S198
  • [49] Targeted Massively Parallel Sequencing for the Molecular Diagnosis of 46, XY Disorders of Sex Development (DSD)
    Gomes, N. L.
    Lerario, A. M.
    Franca, M. M.
    Nishi, M. Y.
    Funari, M. F.
    Costa, E. M. F.
    Faria Junior, J. A. D.
    Batista, R. L.
    Domenice, S.
    Mendonca, B. B.
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 6 - 6
  • [50] Importance of embryo aneuploidy screening in preimplantation genetic diagnosis for monogenic diseases using the karyomap gene chip
    Li, Gang
    Niu, Wenbin
    Jin, Haixia
    Xu, Jiawei
    Song, Wenyan
    Guo, Yihong
    Su, Yingchun
    Sun, Yingpu
    SCIENTIFIC REPORTS, 2018, 8