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Updated: May 21, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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验证一个全面的长读测序平台,用于广泛的临床遗传诊断

Siddhartha Sen1, Hillary P Handler2, Alec Victorsen1

  • 1University of Minnesota Health Sciences, University of Minnesota Medical Center, Minneapolis, MN, United States.

Frontiers in genetics
|May 19, 2025
PubMed
概括

长读测序为遗传疾病提供了全面的遗传测试,检测SNVs,indels,SVs和重复扩张等多种变体. 这种方法提高了复杂遗传疾病的诊断效率和准确性.

关键词:
牛津纳米孔技术公司串联重复扩展可以重复.临床基因组学 临床基因组学复杂的结构变体.长时间阅读序列排序.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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