Exome sequencing in children and adolescents with rare diseases Current situation, challenges, perspectives

被引：0

作者：

Scholz, Tasja ^{[1
]}

Dufke, Andreas ^{[2
]}

Haack, Tobias ^{[2
]}

Elbracht, Miriam ^{[3
]}

Eggermann, Thomas ^{[3
]}

Roggia, Cristiana ^{[2
]}

Riess, Olaf ^{[2
]}

Kurth, Ingo ^{[3
]}

Hempel, Maja ^{[4
]}

机构：

[1] Univ Hamburg Eppendorf, Inst Humangenetik, Hamburg, Germany

[2] Univ Tubingen, Inst Medizin Genetik & Angew Genomik, Tubingen, Germany

[3] Uniklinik RWTH Aachen, Med Fak, Inst Humangenet, Aachen, Germany

[4] Heidelberg Univ, Inst Humangenet, Heidelberg, Germany

来源：

MONATSSCHRIFT KINDERHEILKUNDE | 2022年 / 170卷 / 01期

关键词：

Next-generation sequencing; Genetic diagnostics; Variants of unknown significance; Incidental findings; CLINICAL EXOME; GENETICS; RECOMMENDATIONS;

D O I：

10.1007/s00112-021-01352-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The majority of the more than 8000 currently known "rare diseases" (orphan diseases) have an onset in infancy or childhood. Diagnosis at this age can be challenging because the symptoms are frequently nonspecific and/or overlapping. The new genetic method of next generation sequencing (NGS) is a noninvasive diagnostic tool that in many cases enables the rapid and reliable clarification of monogenetic diseases. For the meaningful use of NGS, it is important to know the technical and methodological limitations of this method, to be aware of the challenges of variant assessment and to keep an eye on the perspectives of genetic diagnostics for the clinical management of patients.

引用

页码：21 / 28

页数：8