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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

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第一作者： Diane B,Zastrow

第一单位： Center for Undiagnosed Diseases, Stanford University, Stanford, California.

作者： Diane B,Zastrow ^[1] ; Jennefer N,Kohler ^[1] ; Devon,Bonner ^[1] ; Chloe M,Reuter ^[1] ; Liliana,Fernandez ^[1] ; Megan E,Grove ^[2] ; Dianna G,Fisk ^[2] ; Undiagnosed Diseases Network ^[3] ; Yaping,Yang ^[3] ; Christine M,Eng ^[3] ; Patricia A,Ward ^[4] ; David,Bick ^[4] ; Elizabeth A,Worthey ^[5] ; Paul G,Fisher ^[6] ; Euan A,Ashley ^[7] ; Jonathan A,Bernstein ^[8] ; Matthew T,Wheeler

作者单位： Center for Undiagnosed Diseases, Stanford University, Stanford, California. ^[1] Clinical Genomics Program, Stanford Health Care, Stanford, California. ^[2] Baylor College of Medicine, Houston, Texas. ^[3] HudsonAlpha Institute for Biotechnology, Huntsville, Alabama. ^[4] Center for Undiagnosed Diseases, Stanford University, Stanford, California.;Department of Neurology, Stanford University School of Medicine, Stanford, California.;Department of Pediatrics, Stanford University School of Medicine, Stanford, California. ^[5] Center for Undiagnosed Diseases, Stanford University, Stanford, California.;Clinical Genomics Program, Stanford Health Care, Stanford, California.;Department of Genetics, Stanford University School of Medicine, Stanford, California.;Department of Medicine, Stanford University School of Medicine, Stanford, California. ^[6] Center for Undiagnosed Diseases, Stanford University, Stanford, California.;Department of Pediatrics, Stanford University School of Medicine, Stanford, California. ^[7] Center for Undiagnosed Diseases, Stanford University, Stanford, California.;Department of Medicine, Stanford University School of Medicine, Stanford, California. ^[8]

关键词 exome sequencing genome sequencing rare diseases sequencing reanalysis undiagnosed diseases

医学主题词女(雌)性(Female);随访研究(Follow-Up Studies);人类(Humans);男(雄)性(Male);表型(Phenotype);少见病(Rare Diseases);序列分析, DNA(Sequence Analysis, DNA)

DOI 10.1002/jgc4.1119

PMID 30964584

发布时间 2024-07-31

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准确一般字义偏差语意偏离译文作用小提交