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Updated: Jul 15, 2025

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多基因下一代测序面板对"脑麻"表型和其他复杂运动障碍的局限性

Marina Eskandar1, Laura Tochen1, Mi Ran Shin2

  • 1Division of Child Neurology, Children's National Hospital, Washington District of Columbia.

Pediatric neurology
|September 27, 2023
PubMed
概括

诊断模仿婴儿脑 (CP) 的罕见遗传疾病是具有挑战性的. 外体序列测定在患有性半症的患者中发现了与TTC19相关的线粒体缺陷,使得有针对性的管理成为可能.

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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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