Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

被引：81

作者：

Kingsmore, Stephen F. ^{[1
,2
]}

Saunders, Carol J. ^{[2
]}

机构：

[1] Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

[2] Childrens Mercy Hosp, Kansas City, MO 64108 USA

来源：

SCIENCE TRANSLATIONAL MEDICINE | 2011年 / 3卷 / 87期

关键词：

MENTAL-RETARDATION; MUTATIONS; STANDARDS; CAPTURE; HEALTH; GENE;

D O I：

10.1126/scitranslmed.3002695

中图分类号：

Q2 [细胞生物学];

学科分类号：

071013 [干细胞生物学];

摘要：

Next-generation sequencing technologies have greatly lowered the cost of whole-genome sequencing (WGS) and related approaches. Thus, comprehensive sequencing for diagnostic purposes may clear this financial hurdle in the near future. The report by Bainbridge and colleagues in this issue of Science Translational Medicine illustrates the diagnostic power of WGS. In this Perspective, we discuss whether and how genome sequencing might become routine for clinical diagnosis.

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