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Updated: Jul 23, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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快速全基因组测序和针对性新生儿基因组

Jill L Maron1, Stephen Kingsmore2, Bruce D Gelb3

  • 1Women and Infants Hospital of Rhode Island, Providence.

JAMA
|July 11, 2023
PubMed
概括

基因组测序与向基因测试相比,对患有遗传疾病的婴儿提供了更高的诊断产量,尽管结果可能需要更长的时间. 不同的解释影响了临床决策.

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Next-generation Sequencing03:00

Next-generation Sequencing

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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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