Short Read (Next-Generation) Sequencing: A Tutorial With Cardiomyopathy Diagnostics as an Exemplar

被引：21

作者：

Punetha, Jaya ^{[1
,2
]}

Hoffman, Eric P. ^{[1
,2
]}

机构：

[1] George Washington Univ, Sch Med, Dept Integrat Syst Biol, Washington, DC 20052 USA

[2] Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

来源：

CIRCULATION-CARDIOVASCULAR GENETICS | 2013年 / 6卷 / 04期

基金：

美国国家卫生研究院;

关键词：

cardiomyopathies; cardiomyopathy; dilated; connectin; exome; genetics; humans; Massively-Parallel Sequencing; FAMILIAL DILATED CARDIOMYOPATHY; EARLY RESPIRATORY-FAILURE; ACTIVATED PROTEIN-C; FACTOR-V-LEIDEN; INCIDENTAL FINDINGS; IMMUNOELECTRON MICROSCOPY; MALIGNANT HYPERTHERMIA; HEREDITARY MYOPATHY; GENOMIC MEDICINE; SKELETAL-MUSCLE;

D O I：

10.1161/CIRCGENETICS.113.000085

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：427 / 434

页数：8

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