A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

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第一作者： Stephen F,Kingsmore

第一单位： Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA. Electronic address: skingsmore@rchsd.org.

作者： Stephen F,Kingsmore ^[1] ; Julie A,Cakici ^[2] ; Michelle M,Clark ^[3] ; Mary,Gaughran ^[3] ; Michele,Feddock ^[3] ; Sergey,Batalov ^[3] ; Matthew N,Bainbridge ^[3] ; Jeanne,Carroll ^[4] ; Sara A,Caylor ^[3] ; Christina,Clarke ^[3] ; Yan,Ding ^[3] ; Katarzyna,Ellsworth ^[3] ; Lauge,Farnaes ^[4] ; Amber,Hildreth ^[5] ; Charlotte,Hobbs ^[3] ; Kiely,James ^[3] ; Cyrielle I,Kint ^[6] ; Jerica,Lenberg ^[3] ; Shareef,Nahas ^[3] ; Lance,Prince ^[7] ; Iris,Reyes ^[3] ; Lisa,Salz ^[3] ; Erica,Sanford ^[4] ; Peter,Schols ^[6] ; Nathaly,Sweeney ^[4] ; Mari,Tokita ^[3] ; Narayanan,Veeraraghavan ^[3] ; Kelly,Watkins ^[3] ; Kristen,Wigby ^[4] ; Terence,Wong ^[3] ; Shimul,Chowdhury ^[3] ; Meredith S,Wright ^[3] ; David,Dimmock ^[3] ; RCIGM Investigators

作者单位： Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA. Electronic address: skingsmore@rchsd.org. ^[1] Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Department of Family Medicine and Public Health, University of California San Diego, San Diego, CA 92093, USA. ^[2] Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA. ^[3] Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA. ^[4] Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. ^[5] Diploid, 3001 Leuven, Belgium. ^[6] Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA. ^[7]

关键词 diagnosis genetic disease genomic medicine infant intensive care unit precision medicine ultra-rapid whole-genome sequencing whole-exome sequencing whole-genome sequencing

主题词基因检测(Genetic Testing);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn)

DOI 10.1016/j.ajhg.2019.08.009

PMID 31564432

发布时间 2022-12-07

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