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JoVE Journal Genetics
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
 

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Article DOI: 10.3791/59658-v • 06:41 min • August 20th, 2019
August 20th, 2019 •
*1, *2, 1,3,4,5, 1,2,4, 1,2,4,5
1Department of Molecular and Human Genetics, Baylor College of Medicine, 2Program in Developmental Biology, Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Neuroscience, Baylor College of Medicine
* These authors contributed equally

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Summary
Automatic Translation

The goal of this protocol is to outline the design and performance of in vivo experiments in Drosophila melanogaster to assess the functional consequences of rare gene variants associated with human diseases.

Tags

In Vivo Functional Study Disease-associated Rare Human Variants Drosophila Missense Variants Protein Function Rapid Analysis Rare Diseases Disease Mechanism Analysis Potential Therapies Autism Cancer Reproducible Phenotypes Rescue Experiments Overexpression Studies Transgenic Flies Gal4 Upstream
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