ESTIMATING THE VALUE OF WHOLE EXOME SEQUENCING FOR PARENTS OF CHILDREN WITH RARE GENETIC DISEASES

被引:0
|
作者
Marshall, D. A. [1 ]
MacDonald, K., V [2 ]
Lopatina, E. [2 ]
Mackenzie, A. [3 ]
Hartley, T. [3 ]
Boycott, K. [3 ]
机构
[1] Alberta Bone & Joint Hlth Inst, Calgary, AB, Canada
[2] Univ Calgary, Calgary, AB, Canada
[3] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
关键词
D O I
10.1016/j.jval.2015.03.1666
中图分类号
F [经济];
学科分类号
02 ;
摘要
PND46
引用
收藏
页码:A286 / A286
页数:1
相关论文
共 50 条
  • [1] The Diagnostic Value Of Whole Exome Sequencing In The Investigation Of Children With Complex Respiratory Diseases
    Keown, K.
    Turvey, S.
    Del Bel, K.
    McKinnon, M.
    Seear, M.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2017, 195
  • [2] THE VALUE OF DIAGNOSTIC TESTING FOR PARENTS OF CHILDREN WITH RARE GENETIC DISEASES
    Marshall, D. A.
    MacDonald, K., V
    Bernier, F. P.
    Innes, A. M.
    Hartley, T.
    McInnes, B.
    Deal, K.
    Gillespie, M.
    Mackenzie, A.
    Boycott, K. M.
    VALUE IN HEALTH, 2017, 20 (05) : A196 - A196
  • [3] The value of diagnostic testing for parents of children with rare genetic diseases
    Marshall, Deborah A.
    MacDonald, Karen V.
    Heidenreich, Sebastian
    Hartley, Taila
    Bernier, Francois P.
    Gillespie, Meredith K.
    McInnes, Brenda
    Innes, A. Micheil
    Armour, Christine M.
    Boycott, Kym M.
    GENETICS IN MEDICINE, 2019, 21 (12) : 2798 - 2806
  • [4] The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
    Lai, Guihua
    Gu, Qiying
    Lai, Zhiyong
    Chen, Haijun
    Chen, Junkun
    Huang, Jungao
    FRONTIERS IN PEDIATRICS, 2024, 12
  • [5] Clinical whole exome sequencing in a patient with multiple rare diseases
    Du, Xiaoli
    Ayala, Sofia Saenz
    Han, Jingfen
    Wei, Chao
    Weaver, Kathryn Nicole
    Wu, Yaning
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S138 - S138
  • [6] GENETIC ANALYSIS OF WHOLE EXOME SEQUENCING IN A COHORT OF CHILDREN WITH REFRACTORY JIA REVEALS GENETIC RISK FACTORS FOR RARE JUVENILE DISEASES.
    Tordoff, M.
    Smith, S.
    Rice, G. I.
    Morris, A.
    Briggs, T.
    Thomson, W.
    Eyre, S.
    Bowes, J.
    ANNALS OF THE RHEUMATIC DISEASES, 2022, 81 : 311 - 311
  • [7] Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
    Chassagne, Aline
    Pelissier, Aurore
    Houdayer, Francoise
    Cretin, Elodie
    Gautier, Elodie
    Salvi, Dominique
    Kidri, Sarah
    Godard, Aurelie
    Thauvin-Robinet, Christel
    Masurel, Alice
    Lehalle, Daphne
    Jean-Marcais, Nolwenn
    Thevenon, Julien
    Lesca, Gaetan
    Putoux, Audrey
    Cordier, Marie-Pierre
    Dupuis-Girod, Sophie
    Till, Marianne
    Duffourd, Yannis
    Riviere, Jean-Baptiste
    Joly, Lorraine
    Juif, Christine
    Putois, Olivier
    Ancet, Pierre
    Lapointe, Anne-Sophie
    Morin, Paulette
    Edery, Patrick
    Rossi, Massimiliano
    Sanlaville, Damien
    Bejean, Sophie
    Peyron, Christine
    Faivre, Laurence
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (05) : 701 - 710
  • [8] Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
    Aline Chassagne
    Aurore Pélissier
    Françoise Houdayer
    Elodie Cretin
    Elodie Gautier
    Dominique Salvi
    Sarah Kidri
    Aurélie Godard
    Christel Thauvin-Robinet
    Alice Masurel
    Daphné Lehalle
    Nolwenn Jean-Marçais
    Julien Thevenon
    Gaetan Lesca
    Audrey Putoux
    Marie-Pierre Cordier
    Sophie Dupuis-Girod
    Marianne Till
    Yannis Duffourd
    Jean-Baptiste Rivière
    Lorraine Joly
    Christine Juif
    Olivier Putois
    Pierre Ancet
    Anne-Sophie Lapointe
    Paulette Morin
    Patrick Edery
    Massimiliano Rossi
    Damien Sanlaville
    Sophie Béjean
    Christine Peyron
    Laurence Faivre
    European Journal of Human Genetics, 2019, 27 : 701 - 710
  • [9] Rare genetic disorders: Beyond whole-exome sequencing
    Umair, Muhammad
    JOURNAL OF GENE MEDICINE, 2023, 25 (10):
  • [10] Diagnostic exome sequencing of Danish families with rare genetic diseases
    Ek, J.
    Risom, L.
    Ostergaard, E.
    Duno, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 673 - 674