Establishing sequencing coverage depth for preimplantation genetic testing for monogenic disorders (PGT-M) using a specific targeted next generation sequencing (tNGS)

被引：0
|
作者：
Garcia Pascual, C. M. [1 ]
Guo, V. [2 ]
Wang, X. [2 ]
Zhan, Y. [2 ]
Mounts, E. [2 ]
Capalbo, A. [3 ]
Jalas, C. [2 ]
Tao, X. [2 ]
机构：
[1] Juno Genet, Genet, Paterna, Spain
[2] Juno Genet US, Genet, Basking Ridge, NJ USA
[3] Juno Genet Italy, Genet, Rome, Italy
来源：
HUMAN REPRODUCTION | 2024年 / 39卷
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-528
引用
收藏
页数：2
相关论文
共 50 条
  • [21] COMPARISON OF ETHICAL PERSPECTIVES OF INDIVIDUALS CONSIDERING PREIMPLANTATION EMBRYO GENETIC TESTING FOR ANEUPLOIDY (PGT-A) VS. MONOGENIC DISORDERS (PGT-M).
    Zhang, Jiahui
    Pastore, Lisa M.
    Rubin, Lisa R.
    FERTILITY AND STERILITY, 2020, 114 (03) : E434 - E435
  • [22] Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M)
    Yang, Lin
    Xu, Yan
    Xia, Jun
    Yan, Huijuan
    Ding, Chenhui
    Shi, Qianyu
    Wu, Yujing
    Liu, Ping
    Pan, Jiafu
    Zeng, Yanhong
    Zhang, Yanyan
    Chen, Fang
    Jiang, Hui
    Xu, Yanwen
    Li, Wei
    Zhou, Canquan
    Gao, Ya
    FRONTIERS IN GENETICS, 2022, 13
  • [23] Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam
    Mai, Anh Dao
    Harton, Gary L.
    Quang, Vinh Nguyen
    Van, Huynh Nguyen
    Thi, Nhung Hoang
    Thuy, Nga Pham
    Le Thi, Thu Hien
    Minh, Duc Nguyen
    Quoc, Quan Tran
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2021, 38 (02) : 365 - 374
  • [24] Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam
    Anh Dao Mai
    Gary L. Harton
    Vinh Nguyen Quang
    Huynh Nguyen Van
    Nhung Hoang Thi
    Nga Pham Thuy
    Thu Hien Le Thi
    Duc Nguyen Minh
    Quan Tran Quoc
    Journal of Assisted Reproduction and Genetics, 2021, 38 : 365 - 374
  • [25] Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease
    Treff, Nathan R.
    Fedick, Anastasia
    Tao, Xin
    Devkota, Batsal
    Taylor, Deanne
    Scott, Richard T., Jr.
    FERTILITY AND STERILITY, 2013, 99 (05) : 1377 - +
  • [26] PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) FOLLOWED BY PGT-FOR MONOGENIC/SINGLE GENE DISEASES (PGT-M) IS THE SEQUENCE OF CHOICE IN PRECONCEPTION GENETIC TESTING WITH NON-DOMINANT DISORDERS.
    Abittan, B.
    Singer, T.
    Mullin, C.
    Bristow, S. L.
    Hershlag, A.
    FERTILITY AND STERILITY, 2018, 110 (04) : E422 - E422
  • [27] Successful experiences of preimplantation genetic testing for monogenic diseases (PGT-M): a step forward for clinical genetics in Mexico
    Pina-Aguilar, Raul
    Callul-Bago, Anna
    Aguinaga, Monica
    Gonzalez-Ortega, Claudia
    Pascual-Rodriguez, Antonio
    Perez-Pena, Efrain
    Iniguez-Arteaga, Erika
    Sanchez-Gonzalez, Dante
    Martinez-Garza, Sandra
    Chavez-Badiola, Alejandro
    Gutierrez-Gutierrez, Antonio
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S306 - S307
  • [28] GENETIC TESTING FOR MONOGENIC DIABETES USING TARGETED NEXT-GENERATION SEQUENCING IN THE MODY REGISTRY COHORT OF POLAND
    Szopa, M.
    Ludwig-Galezowska, A.
    Machlowska, J.
    Skupien, J.
    Radkowski, P.
    Klupa, T.
    Kiec-Wilk, B.
    Wybranska, I.
    Wolkow, P.
    Malecki, M. T.
    DIABETES TECHNOLOGY & THERAPEUTICS, 2015, 17 : A141 - A141
  • [29] Genetic testing for monogenic diabetes using targeted next-generation sequencing in the MODY registry cohort of Poland
    Ludwig-Galezowska, A.
    Szopa, M.
    Machlowska, J.
    Skupien, J.
    Radkowski, P.
    Klupa, T.
    Koblik, T.
    Zapala, B.
    Staszel, T.
    Kiec-Wilk, B.
    Wybranska, I.
    Wolkow, P.
    Malecki, M. T.
    DIABETOLOGIA, 2014, 57 : S158 - S158
  • [30] Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)
    Caroselli, S.
    Girardi, L.
    Poli, M.
    Cogo, F.
    Patassini, C.
    Pergher, I.
    Costa, M.
    Mirave Valenciano, J. A.
    Jimene Almazan, J.
    Bau, D.
    Rubio, C.
    Bles Jarque, D.
    Simon, C.
    Capalbo, A.
    HUMAN REPRODUCTION, 2021, 36 : 381 - 382
12345