Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition

被引：19

作者：

Ku, C. S. ^{[1
]}

Cooper, D. N. ^{[2
]}

Iacopetta, B. ^{[3
]}

Roukos, D. H. ^{[4
,5
]}

机构：

[1] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[2] Cardiff Univ, Sch Med, Inst Med Genet, Cardiff, S Glam, Wales

[3] Univ Western Australia, Sch Surg, Crawley, WA, Australia

[4] Univ Ioannina, Ctr Biosyst & Genom Network Med, GR-45110 Ioannina, Greece

[5] Univ Ioannina, Sch Med, Dept Surg, GR-45110 Ioannina, Greece

来源：

CLINICAL GENETICS | 2013年 / 83卷 / 01期

关键词：

diagnostics; exome; hereditary cancer; next-generation sequencing; EXOME; MUTATIONS; GENES; PLATFORMS; VARIANTS; CAPTURE; ENRICHMENT; BREAST;

D O I：

10.1111/cge.12028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Ku CS, Cooper DN, Iacopetta B, Roukos DH. Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clin Genet 2013: 83: 2-6. (C) John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 The clinical application of next-generation sequencing (NGS) as a diagnostic tool has become increasingly evident. The coupling of NGS technologies with new genomic sequence enrichment methods has made the sequencing of panels of target genes technically feasible, at the same time as making such an approach cost-effective for diagnostic applications. In this article, we discuss recent studies that have applied NGS in the diagnostic setting in relation to hereditary cancer.

引用

页码：2 / 6

页数：5

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