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Updated: Jul 24, 2025

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对患有复杂先天性心脏病的重症婴儿实施快速基因组测序

Thomas Hays1, Rebecca Hernan2, Michele Disco2

  • 1Division of Neonatology, Department of Pediatrics (T.H., N.G., D.V., G.K.), Columbia University Irving Medical Center, New York, NY.

Circulation. Genomic and precision medicine
|July 7, 2023
PubMed
概括

快速基因组测序 (rGS) 在27%患有复杂先天性心脏病 (CHD) 的婴儿中诊断出遗传障碍. 这在62%的病例中导致了显著的临床管理变化,改善了婴儿护理.

关键词:
遗传性心脏缺陷 遗传性心脏缺陷 遗传性心脏缺陷基因组医学是基因组医学.精准医学是一门精准医学.整个基因组的测序.

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Although all next-generation methods use different technologies, they all share a set of standard features....
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