Massively parallel sequencing: the new frontier of hematologic genomics

被引：16

作者：

Johnsen, Jill M. ^{[1
,2
]}

Nickerson, Deborah A. ^{[3
]}

Reiner, Alex P. ^{[4
,5
]}

机构：

[1] Univ Washington, Dept Med, Seattle, WA USA

[2] Puget Sound Blood Ctr, Res Inst, Seattle, WA 98104 USA

[3] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[4] Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA

[5] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA

来源：

BLOOD | 2013年 / 122卷 / 19期

基金：

美国国家卫生研究院;

关键词：

STRUCTURAL VARIATION; AFRICAN-AMERICANS; WIDE ASSOCIATION; DNA METHYLATION; GENE; NANOPORE; VARIANTS; CAPTURE; RESOLUTION; DISSECTION;

D O I：

10.1182/blood-2013-07-460287

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genomic technologies are becoming a routine part of human genetic analysis. The exponential growth in DNA sequencing capability has brought an unprecedented understanding of human genetic variation and the identification of thousands of variants that impact human health. In this review, we describe the different types of DNA variation and provide an overview of existing DNA sequencing technologies and their applications. As genomic technologies and knowledge continue to advance, they will become integral in clinical practice. To accomplish the goal of personalized genomic medicine for patients, close collaborations between researchers and clinicians will be essential to develop and curate deep databases of genetic variation and their associated phenotypes.

引用

页码：3268 / 3275

页数：8

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