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Updated: Jun 16, 2026

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针对意大利患者的下一代测序分析

Marco Lombardo1,2, Umberto Camellin3, Raffaella Gioia4

  • 1Studio Italiano di Oftalmologia, Via Livenza 3, 00198, Rome, Italy. mlombardo@visioeng.it.

Eye (London, England)
|April 29, 2024
PubMed
概括

在意大利的患者中,使用下一代测序 (NGS) 鉴定了角 (KC) 的遗传变异. 费拉格林基因突变是KC疾病进展的重要危险因素.

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相关概念视频

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.