Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review

被引：0
|
作者：
Hemmo A. F. Yska
Kim Elsink
Taco W. Kuijpers
Geert W. J. Frederix
Mariëlle E. van Gijn
Joris M. van Montfrans
机构：
[1] University Medical Centre Utrecht,Department of Pediatric Immunology and Infectious Diseases
[2] University of Amsterdam,Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children’s Hospital, Academic Medical Centre
[3] University Medical Centre Utrecht,Department of Medical Genetics
[4] University Medical Centre Utrecht,Julius Center for Health Sciences and Primary Care
来源：
Journal of Clinical Immunology | 2019年 / 39卷
关键词：
Primary immunodeficiency (PID); next generation sequencing (NGS); diagnostic yield; technological performance; clinical performance; whole exome sequencing (WES); whole genome sequencing (WGS);
D O I：
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学科分类号：
摘要：
引用
收藏
页码：577 / 591
页数：14
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