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JoVE Journal Genetics
Navegando por MARRVEL, una herramienta basada en la Web que integra la genómica humana y la información genética de organismos modelo
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Journal (Genetics)
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Navegando por MARRVEL, una herramienta basada en la Web que integra la genómica humana y la información genética de organismos modelo

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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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.

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Genética Número 150 Genómica humana priorización de variantes organismos modelo genética enfermedades raras y no diagnosticadas genómica funcional integración de bases de datos investigación traslacional diagnóstico médico variante de importancia desconocida gen de significación incierta herramienta basada en la web
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