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Navigering MARRVEL, et webbaseret værktøj, der integrerer menneskelig Genomics og model organisme genetik information
JoVE Journal
Genetics
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JoVE Journal Genetics
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
DOI:

09:37 min

August 15, 2019

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Chapters

  • 00:04Title
  • 00:48Beginning a Search in MARRVEL Based on Human Genes and Variants
  • 01:47Obtaining Information about Ortholog Candidate Genes in Model Organism Data in MARRVEL
  • 05:26Beginning a Search in MARRVEL Based on Model Organism Genes
  • 06:35Interpreting MARRVEL Human Genetics Outputs for a Gene and Variant Search
  • 07:21Results: Representative MARRVEL Search Output: TBX2
  • 08:45Conclusion

Summary

Automatic Translation

Her præsenterer vi en protokol for at få adgang til og analysere mange menneskelige og model organismer databaser effektivt. Denne protokol demonstrerer brugen af MARRVEL til at analysere kandidat sygdomsfremkaldende varianter identificeret fra næste generations sekvensering.

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