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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
Aqui, apresentamos um protocolo para acessar e analisar muitas bases de dados de organismos humanos e modelo de forma eficiente. Este protocolo demonstra o uso de MARRVEL para analisar variantes causadoras de doenças candidatas identificadas a partir de esforços de sequenciamento de próxima geração.
