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Journal / Genetics / Navigera i MARRVEL, ett webbaserat verktyg som…
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JoVE Journal Genetics
Navigera i MARRVEL, ett webbaserat verktyg som integrerar Human Genomics och Modellorganismens gen etik information
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Navigera i MARRVEL, ett webbaserat verktyg som integrerar Human Genomics och Modellorganismens gen etik 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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Här presenterar vi ett protokoll för att effektivt komma åt och analysera många human-och modellorganismens databaser. Detta protokoll visar användningen av MARRVEL för att analysera kandidat sjukdomsframkallande varianter som identifierats från nästa generations sekvenserings arbete.

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Genetik fråga 150 Human Genomics variant prioritering modellorganismer genetik sällsynta och odiagnostiserade sjukdomar funktionsgenomik databas integration translationell forskning medicinsk diagnos variant av okänd betydelse gen av osäker betydelse webbaserat verktyg
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