Whole-Genome Sequencing in Personalized Therapeutics

被引：27

作者：

Cordero, P. ^{[2
]}

Ashley, E. A. ^{[1
]}

机构：

[1] Stanford Univ, Div Cardiovasc Med, Ctr Inherited Cardiovasc Dis, Stanford, CA 94305 USA

[2] Stanford Univ, Program Biomed Informat, Stanford, CA 94305 USA

来源：

CLINICAL PHARMACOLOGY & THERAPEUTICS | 2012年 / 91卷 / 06期

关键词：

WIDE ASSOCIATION; COPY NUMBER; GENE; MUTATIONS; VARIANTS; PROTEIN; RISK; PHARMACOGENETICS; METHOTREXATE; INFORMATION;

D O I：

10.1038/clpt.2012.51

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Eleven years since the initial drafts of the human genome were published, we have begun to see the first examples of the application of whole-genome sequencing to personalized diagnosis and therapeutics. The exponential decline in sequencing costs and the constant improvement in these technologies promise to further advance the use of a patient's full genetic profile in the clinic. However, realizing the potential benefit of such sequencing will require a concerted effort by science, medicine, law, and management. In this review, we discuss current approaches to decoding the 6 billion-letter genetic code of a whole genome in a clinical context, give current examples of translating this information into therapy-guiding knowledge, and list the challenges that will need to be surmounted before these powerful data can be fully exploited to forward the goals of personalized medicine.

引用

页码：1001 / 1009

页数：9

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