个性化医学的生物信息学挑战。
Bioinformatics challenges for personalized medicine.
机构信息
Biomedical Informatics Training Program, Stanford University School of Medicine, Department of Bioengineering, Stanford University, Stanford, CA, USA.
出版信息
Bioinformatics. 2011 Jul 1;27(13):1741-8. doi: 10.1093/bioinformatics/btr295. Epub 2011 May 19.
MOTIVATION
Widespread availability of low-cost, full genome sequencing will introduce new challenges for bioinformatics.
RESULTS
This review outlines recent developments in sequencing technologies and genome analysis methods for application in personalized medicine. New methods are needed in four areas to realize the potential of personalized medicine: (i) processing large-scale robust genomic data; (ii) interpreting the functional effect and the impact of genomic variation; (iii) integrating systems data to relate complex genetic interactions with phenotypes; and (iv) translating these discoveries into medical practice.
CONTACT
动机
低成本、全基因组测序的广泛应用将给生物信息学带来新的挑战。
结果
本综述概述了测序技术和基因组分析方法的最新进展，这些方法将应用于个性化医疗。为了实现个性化医疗的潜力，需要在四个领域开发新方法：（i）处理大规模稳健的基因组数据；（ii）解释功能效应和基因组变异的影响；（iii）整合系统数据，将复杂的遗传相互作用与表型联系起来；（iv）将这些发现转化为医学实践。
联系方式
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