Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics

被引:18
|
作者
Yu, Yongguo [2 ,3 ]
Wu, Bai-lin [3 ,4 ]
Wu, Jie [1 ]
Shen, Yiping [2 ,3 ,4 ]
机构
[1] Nanjing Med Univ, Affiliated Hosp 1, Nanjing, Jiangsu, Peoples R China
[2] Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Shanghai 200030, Peoples R China
[3] Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA
[4] Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA
关键词
D O I
10.1373/clinchem.2012.193128
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:1507 / 1509
页数:3
相关论文
共 50 条
  • [21] Exome and whole-genome sequencing for gene discovery: The future is now!
    Majewski, Jacek
    Rosenblatt, David S.
    HUMAN MUTATION, 2012, 33 (04) : 591 - 592
  • [22] Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues
    Hallowell, Nina
    Hall, Alison
    Alberg, Corinna
    Zimmern, Ron
    JOURNAL OF MEDICAL ETHICS, 2015, 41 (04) : 317 - 321
  • [23] Feasibility of whole-genome sequencing-based tumor diagnostics in routine pathology practice
    Samsom, Kris G.
    Schipper, Luuk J.
    Roepman, Paul
    Bosch, Linda J. W.
    Lalezari, Ferry
    Klompenhouwer, Elisabeth G.
    de Langen, Adrianus J.
    Buffart, Tineke E.
    Riethorst, Immy
    Schoenmaker, Lieke
    Schout, Daoin
    van der Noort, Vincent
    van den Berg, Jose G.
    de Bruijn, Ewart
    van der Hoeven, Jacobus J. M.
    van Snellenberg, Hans
    van der Kolk, Lizet E.
    Cuppen, Edwin
    Voest, Emile E.
    Meijer, Gerrit A.
    Monkhorst, Kim
    JOURNAL OF PATHOLOGY, 2022, 258 (02): : 179 - 188
  • [24] Readability of informed consent forms for whole-exome and whole-genome sequencing
    Niemiec E.
    Vears D.F.
    Borry P.
    Howard H.C.
    Journal of Community Genetics, 2018, 9 (2) : 143 - 151
  • [25] Quantifying tumor heterogeneity in whole-genome and whole-exome sequencing data
    Oesper, Layla
    Satas, Gryte
    Raphael, Benjamin J.
    BIOINFORMATICS, 2014, 30 (24) : 3532 - 3540
  • [26] Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care
    Klein, Hanns-Georg
    Bauer, Peter
    Hambuch, Tina
    LABORATORIUMSMEDIZIN-JOURNAL OF LABORATORY MEDICINE, 2014, 38 (04): : 221 - 230
  • [27] Molecular diagnosis for pediatric cancer through integrative analysis of whole-genome, whole-exome and transcriptome sequencing
    Zhang, Jinghui
    Rusch, Michael
    Nakitandwe, Joy
    Zhang, Zhaojie
    Edmonson, Michael N.
    Parker, Matthew
    Ma, Xiaotu
    Becksfort, Jared
    Thrasher, Andrew
    Gu, Jiali
    Li, Yongjin
    Hedlund, Erin
    Patel, Aman
    Easton, John
    Yergeau, Donald
    Vadodaria, Bhavin
    Chen, Xiang
    Gruber, Tanja A.
    McGee, Rose
    Ellison, David
    Shurtleff, Sheila
    Downing, James R.
    CANCER RESEARCH, 2016, 76
  • [28] Challenges in the clinical application of whole-genome sequencing
    Ormond, Kelly E.
    Wheeler, Matthew T.
    Hudgins, Louanne
    Klein, Teri E.
    Butte, Atul J.
    Altman, Russ B.
    Ashley, Euan A.
    Greely, Henry T.
    LANCET, 2010, 375 (9727): : 1749 - 1751
  • [29] Clinical Interpretation and Implications of Whole-Genome Sequencing
    Dewey, Frederick E.
    Grove, Megan E.
    Pan, Cuiping
    Goldstein, Benjamin A.
    Bernstein, Jonathan A.
    Chaib, Hassan
    Merker, Jason D.
    Goldfeder, Rachel L.
    Enns, Gregory M.
    David, Sean P.
    Pakdaman, Neda
    Ormond, Kelly E.
    Caleshu, Colleen
    Kingham, Kerry
    Klein, Teri E.
    Whirl-Carrillo, Michelle
    Sakamoto, Kenneth
    Wheeler, Matthew T.
    Butte, Atul J.
    Ford, James M.
    Boxer, Linda
    Ioannidis, John P. A.
    Yeung, Alan C.
    Altman, Russ B.
    Assimes, Themistocles L.
    Snyder, Michael
    Ashley, Euan A.
    Quertermous, Thomas
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 311 (10): : 1035 - 1044
  • [30] Clinical whole-genome sequencing in cancer diagnosis
    Hou, Ying-Chen C.
    Neidich, Julie A.
    Duncavage, Eric J.
    Spencer, David H.
    Schroeder, Molly C.
    HUMAN MUTATION, 2022, 43 (11) : 1519 - 1530