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1Program in Developmental Biology,Baylor College of Medicine, 2Medical Scientist Training Program,Baylor College of Medicine, 3Department of Pediatrics,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, 6Department of Neuroscience,Baylor College of Medicine, 7Howard Hughes Medical Institute,Baylor College of Medicine
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
Ici, nous présentons un protocole pour accéder et analyser de nombreuses bases de données d'organismes humains et modèles efficacement. Ce protocole démontre l'utilisation de MARRVEL pour analyser les variantes candidates causant la maladie identifiées dans les efforts de séquençage de la prochaine génération.
