Pilot study demonstrates the feasibility, the diagnostic power and the utility of rapid whole genome sequencing for critically ill pediatric patients in Belgium

被引：0
|
作者：
Lumaka, Aime [1 ]
Fasquelle, Corinne [2 ]
Debray, Guillaume [2 ]
Alkan, Serpil [3 ]
Jacquinet, Adeline [2 ]
Harvengt, Julie [2 ]
Boemer, Francois [2 ]
Palmeira, Leonor [2 ]
Charloteaux, Benoit [2 ]
Brysse, Anne [2 ]
Bulk, Saskia [2 ]
Rigo, Vincent [4 ]
Bours, Vincent [1 ,2 ]
机构：
[1] Univ Liege, Human Genet Lab, GIGA Inst, Liege, Belgium
[2] Ctr Hosp Univ, Ctr Human Genet, Liege, Belgium
[3] CHR Citadelle, CHU Liege, Neuropediat Div, Liege, Belgium
[4] CHR Citadelle, CHU Liege, Div Neonatol, Liege, Belgium
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P16.033.A
引用
收藏
页码：586 / 587
页数：2
相关论文
共 50 条
  • [31] Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO)
    Amin, Milan D.
    Wigby, Kristen
    Suttner, Denise
    Niemi, Anna-Kaisa
    Guidugli, Lucia
    Carroll, Jeanne
    JOURNAL OF PERINATOLOGY, 2024,
  • [32] Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases
    Ouyang, Xuejun
    Zhang, Yu
    Yu, Tian
    Zhang, Qian
    Xu, Lei
    Zhang, Victor Wei
    Wang, Bin
    FRONTIERS IN GENETICS, 2025, 16
  • [33] The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
    Josh E. Petrikin
    Julie A. Cakici
    Michelle M. Clark
    Laurel K. Willig
    Nathaly M. Sweeney
    Emily G. Farrow
    Carol J. Saunders
    Isabelle Thiffault
    Neil A. Miller
    Lee Zellmer
    Suzanne M. Herd
    Anne M. Holmes
    Serge Batalov
    Narayanan Veeraraghavan
    Laurie D. Smith
    David P. Dimmock
    J. Steven Leeder
    Stephen F. Kingsmore
    npj Genomic Medicine, 3
  • [34] The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
    Petrikin, Josh E.
    Cakici, Julie A.
    Clark, Michelle M.
    Willig, Laurel K.
    Sweeney, Nathaly M.
    Farrow, Emily G.
    Saunders, Carol J.
    Thiffault, Isabelle
    Miller, Neil A.
    Zellmer, Lee
    Herd, Suzanne M.
    Holmes, Anne M.
    Batalov, Serge
    Veeraraghavan, Narayanan
    Smith, Laurie D.
    Dimmock, David P.
    Leeder, J. Steven
    Kingsmore, Stephen F.
    NPJ GENOMIC MEDICINE, 2018, 3
  • [35] Beyond Race: A Pilot Study on the Utility of Skin Tone on Pulse Oximetry Bias in Critically Ill Patients
    Wong, A. I.
    Dempsey, K.
    Hao, S.
    Matos, J.
    Cox, C. E.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2024, 209
  • [36] Pilot Safety and Feasibility Study of a Novel Restraint Device in Critically Ill Patients with Acute Respiratory Failure
    Lin, B.
    Kamdar, B. B.
    Pavini, M.
    Ardren, S.
    Burns, S. M.
    Bates, J. H.
    McGinnis, R.
    Menon, P. R.
    Pandian, V.
    Elfsten, E.
    Colantuoni, E.
    Needham, D. M.
    Stapleton, R. D.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2020, 201
  • [37] A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
    Cakici, Julie A.
    Dimmock, David P.
    Caylor, Sara A.
    Gaughran, Mary
    Clarke, Christina
    Triplett, Cynthia
    Clark, Michelle M.
    Kingsmore, Stephen F.
    Bloss, Cinnamon S.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (05) : 953 - 962
  • [38] Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study (vol 22, pg 812, 2023)
    D'Gama, A. M.
    Mulhern, S.
    Sheidley, B. R.
    LANCET NEUROLOGY, 2023, 22 (12): : E13 - E13
  • [39] Rapid Whole Genome Sequencing Improves Clinical Utility and Cost Effectiveness of Acutely Ill Children admitted to Neonatal Intensive Care Units
    Nahas, S.
    Chowdhury, S.
    Dimmock, D.
    Kingsmore, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 801 - 801
  • [40] Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases
    Slaba, Katerina
    Pokorna, Petra
    Jugas, Robin
    Palova, Hana
    Prochazkova, Dagmar
    Aulicka, Stefania
    Spanelova, Klara
    Danhofer, Pavlina
    Horak, Ondrej
    Tuckova, Jana
    Kleiblova, Petra
    Gaillyova, Renata
    Hrunka, Matej
    Jouza, Martin
    Pinkova, Blanka
    Papez, Jan
    Konecna, Petra
    Zidkova, Jana
    Stourac, Petr
    Sterba, Jaroslav
    Demlova, Regina
    Demlova, Eva
    Jabandziev, Petr
    Slaby, Ondrej
    SCIENTIFIC REPORTS, 2024, 14 (01):
12345