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

Article DOI: 10.3791/59542-v • 09:37 min • August 15th, 2019
August 15th, 2019 •
1,2, 3,4, 1,4,5,6,7, 1,4,5,6
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

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Summary
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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.

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MARRVEL Web-based Tool Human Genomics Model Organism Genetics Disease Relevance Rare Genetic Diseases Biological Information Databases Time-saving Tool Physicians Scientists Diagnosis Facilitation Therapeutic Studies Biomedical Fields Gene Search Variant Search Candidate Gene Names HGNC Website Up To Date Gene Symbols Human Variant Information Exome Aggregation Consortium Genome Aggregation Database -based Nomenclature Human Genome Variation Society Guidelines
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