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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
Aquí, presentamos un protocolo para acceder y analizar muchas bases de datos de organismos humanos y modelo de manera eficiente. Este protocolo demuestra el uso de MARRVEL para analizar las variantes que causan la enfermedad candidata identificadas a partir de los esfuerzos de secuenciación de próxima generación.
