Next-generation sequencing entering the clinical arena

被引：23

作者：

Haas, Jan ^{[1
]}

Katus, Hugo A. ^{[1
]}

Meder, Benjamin ^{[1
]}

机构：

[1] Heidelberg Univ, Dept Internal Med 3, D-69120 Heidelberg, Germany

来源：

MOLECULAR AND CELLULAR PROBES | 2011年 / 25卷 / 5-6期

关键词：

Next-generation sequencing; Diagnostic genetic testing; Genetic heart disease; Dilated cardiomyopathy (DCM); Hypertrophic cardiomyopathy (HCM); FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; SENSORINEURAL HEARING-LOSS; BETA-CARDIAC MYOSIN; DILATED CARDIOMYOPATHY; FLUORESCENCE DETECTION; MOLECULAR DIAGNOSTICS; GENE-EXPRESSION; EXON CAPTURE; MOUSE MODEL; LARGE-SCALE;

D O I：

10.1016/j.mcp.2011.08.005

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Over the last decade the genetic etiology of many heritable diseases could be resolved. For heart muscle diseases, so called cardiomyopathies, mutations in more than 40 different genes have been identified. Due to this large genetic heterogeneity and missing of adequate gene-diagnostic tools, most patients are not genetically characterized, which would be important for individualized patient care. Currently, next-generation sequencing technologies are revolutionizing genetic and epigenetic research, since they are capable to produce billions of bases of sequence information in a single experiment Accordingly, this powerful technology can now also open avenues for genetic diagnostics. The scope of this article is to illustrate technical approaches, clinical applications, and yet unsolved problems of next-generation sequencing entering the clinical arena. (C) 2011 Elsevier Ltd. All rights reserved.

引用

页码：206 / 211

页数：6

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