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有针对性的下一代测序和生物信息学管道评价宪政疾病的遗传决定因素
JoVE Journal
Genetics
This content is Free Access.
JoVE Journal Genetics
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
DOI:

09:34 min

April 04, 2018

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Chapters

  • 00:05Title
  • 01:19DNA Isolation from Human Blood Samples
  • 02:20Processing NGS data
  • 04:24Resequencing and Variant Calling
  • 07:58Results: Workflow Identifies Genetic Variants That Contribute to Disease
  • 09:03Conclusion

Summary

Automatic Translation

有针对性的下一代测序是一种时间和成本效益高的方法, 在疾病研究和临床诊断中越来越受欢迎。此处描述的协议介绍了序列化所需的复杂工作流以及用于识别导致疾病的遗传变异的生物信息学过程。

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