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JoVE Journal Genetics
Navigeren MARRVEL, een web-based tool die Human Genomics en model organisme genetica informatie integreert
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Navigeren MARRVEL, een web-based tool die Human Genomics en model organisme genetica informatie integreert

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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Hier presenteren we een protocol voor het efficiënt benaderen en analyseren van veel menselijke en model-organisme databases. Dit protocol demonstreert het gebruik van MARRVEL om kandidaatziekteveroorzakende varianten te analyseren die zijn geïdentificeerd uit de volgende generatie sequentieinspanningen.

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Genetica Human Genomics variant prioritering model organismen genetica zeldzame en niet-gediagnosticeerde ziekten functionele genomics database-integratie translationeel onderzoek medische diagnose variant van onbekende significantie gen van onzekere betekenis web-based tool
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