Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine

被引：28

作者：

Carter, Tonia C. ^{[1
]}

He, Max M. ^{[1
,2
,3
]}

机构：

[1] Marshfield Clin Res Fdn, Ctr Human Genet, Marshfield, WI 54449 USA

[2] Marshfield Clin Res Fdn, Biomed Informat Res Ctr, Marshfield, WI 54449 USA

[3] Univ Wisconsin, Computat & Informat Biol & Med, Madison, WI 53706 USA

来源：

JOURNAL OF HEALTHCARE ENGINEERING | 2016年 / 2016卷

基金：

美国国家卫生研究院;

关键词：

GENERATION SEQUENCING PLATFORMS; WHOLE-GENOME; BIG DATA; LABORATORY STANDARDS; INCIDENTAL FINDINGS; MISSENSE MUTATIONS; ION TORRENT; EXOME; PHARMACOGENOMICS; IMPLEMENTATION;

D O I：

10.1155/2016/3617572

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

Advances in genomic medicine have the potential to change the way we treat human disease, but translating these advances into reality for improving healthcare outcomes depends essentially on our ability to discover disease- and/or drug-associated clinically actionable genetic mutations. Integration and manipulation of diverse genomic data and comprehensive electronic health records (EHRs) on a big data infrastructure can provide an efficient and effective way to identify clinically actionable genetic variants for personalized treatments and reduce healthcare costs. We review bioinformatics processing of next-generation sequencing (NGS) data, bioinformatics infrastructures for implementing precision medicine, and bioinformatics approaches for identifying clinically actionable genetic variants using high-throughput NGS data and EHRs.

引用

页数：14

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