Towards precision medicine

被引：578

作者：

Ashley, Euan A. ^{[1
]}

机构：

[1] Stanford Med, Ctr Inherited Cardiovasc Dis, Falk Cardiovasc Res Bldg,870 Quarry Rd, Stanford, CA 94305 USA

来源：

NATURE REVIEWS GENETICS | 2016年 / 17卷 / 09期

关键词：

INSTITUTES-OF-HEALTH; WHOLE-GENOME; UNDIAGNOSED DISEASES; CYP2C19; GENOTYPE; CYSTIC-FIBROSIS; READ ALIGNMENT; COPY NUMBER; CLOPIDOGREL; SEQUENCE; VARIANTS;

D O I：

10.1038/nrg.2016.86

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There is great potential for genome sequencing to enhance patient care through improved diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential, genomics strategies that have been developed for genetic discovery - including DNA-sequencing technologies and analysis algorithms - need to be adapted to fit clinical needs. This will require the optimization of alignment algorithms, attention to quality-coverage metrics, tailored solutions for paralogous or low-complexity areas of the genome, and the adoption of consensus standards for variant calling and interpretation. Global sharing of this more accurate genotypic and phenotypic data will accelerate the determination of causality for novel genes or variants. Thus, a deeper understanding of disease will be realized that will allow its targeting with much greater therapeutic precision.

引用

页码：507 / 522

页数：16

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