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JoVE Journal

Genetics

This content is Open Access.

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

32.9K Views

09:34 min

April 4th, 2018

April 4th, 2018

32,872 Views

0:05

Title

1:19

DNA Isolation from Human Blood Samples

2:20

Processing NGS data

4:24

Resequencing and Variant Calling

7:58

Results: Workflow Identifies Genetic Variants That Contribute to Disease

9:03

Conclusion

Transcrição

Targeted next-generation sequencing is a time- and cost-efficient approach that is becoming increasingly popular in both disease research and clinical diagnostics. The protocol described here presents the complex workflow required for sequencing and the bioinformatics process used to identify genetic variants that contribute to disease.

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