Next-Generation Sequencing: Next-Generation Quality in Pediatrics

被引：0

作者：

Wortmann, Saskia B. ^{[1
,2
]}

Spenger, Johannes ^{[1
]}

Preisel, Martin ^{[1
]}

Koch, Johannes ^{[1
]}

Rauscher, Christian ^{[1
]}

Bader, Ingrid ^{[3
]}

Mayr, Johannes A. ^{[1
]}

Sperl, Wolfgang ^{[1
]}

机构：

[1] Paracelsus Med Privatuniv, Univ Klin Kinder & Jugendheilkunde, Salzburg, Austria

[2] Tech Univ Munich, Inst Humangenet, Munich, Germany

[3] Paracelsus Med Privatuniv, Div Klin Genet, Univ Klin Kinder & Jugendheilkunde, Salzburg, Austria

来源：

PADIATRIE UND PADOLOGIE | 2018年 / 53卷 / 06期

关键词：

Next-generation sequencing; Exome sequencing; Developmental delay; Mental retardation; Genetics;

D O I：

10.1007/s00608-018-0627-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Exome sequencing enables diagnosis of the underlying genetic defect in agrowing number of patients with, for example, developmental delays. This increases our knowledge of the underlying pathophysiology and opens up therapeutic intervention to asmall but growing number of patients. This article examines the opportunities and limitations of exome sequencing and its influence on daily pediatric practice.

引用

页码：278 / 283

页数：6

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