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Journal / Genetics / Navigering MARRVEL, et webbaseret værktøj, der…
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JoVE Journal Genetics
Navigering MARRVEL, et webbaseret værktøj, der integrerer menneskelig Genomics og model organisme genetik information
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Navigering MARRVEL, et webbaseret værktøj, der integrerer menneskelig Genomics og model organisme genetik 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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Her præsenterer vi en protokol for at få adgang til og analysere mange menneskelige og model organismer databaser effektivt. Denne protokol demonstrerer brugen af MARRVEL til at analysere kandidat sygdomsfremkaldende varianter identificeret fra næste generations sekvensering.

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Genetik Human Genomics variant prioritering model organismer genetik sjældne og udiagnosticerede sygdomme funktionel Genomics database integration Translationel forskning medicinsk diagnose variant af ukendt betydning gen af usikker betydning web-baseret værktøj
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