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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
JoVE Journal
Genetik
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JoVE Journal Genetik
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

DOI:
10.3791/59542-v

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09:37 min

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August 15, 2019

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, , ,
1Program in Developmental Biology,Baylor College of Medicine, 2Medical Scientist Training Program,Baylor College of Medicine, 3Pediatri Anabilim Dalı,Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute,Texas Children’s Hospital, 5Department of Molecular and Human Genetics,Baylor College of Medicine, 6Nörobilim Bölümü,Baylor College of Medicine, 7Howard Hughes Medical Institute,Baylor College of Medicine

'Bölümler'

  • 00:04'Başlık'
  • 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

Özet

'Otomatik Çeviri'

'Otomatik Çeviri'

Here, we present a protocol to access and analyze many human and model organism databases efficiently. This protocol demonstrates the use of MARRVEL to analyze candidate disease-causing variants identified from next-generation sequencing efforts.

'Etiketler'

MARRVELWeb-based ToolHuman GenomicsModel Organism GeneticsDisease RelevanceRare Genetic DiseasesModel Organism DatabasesDiagnosisTherapeutic StudiesGene SearchVariant InformationModel Organism DataGene Function TableOrtholog Prediction

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