JoVE Journal

Genetics

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Methods Article

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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9.6K Views

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09:37 min

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August 15th, 2019

DOI :

10.3791/59542-v

August 15th, 2019

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Julia Wang¹^,², Zhandong Liu³^,⁴, Hugo J. Bellen¹^,⁴^,⁵^,⁶^,⁷, Shinya Yamamoto¹^,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

요약

Here, we present a protocol to access and analyze many human and model organism databases efficiently. This protocol demonstrates the use of MARRVEL to analyze candidate disease-causing variants identified from next-generation sequencing efforts.

더 많은 비디오 탐색

MARRVEL

Human Genomics

Model Organism Genetics

Rare Genetic Diseases

Exome Aggregation Consortium

Genome Aggregation Database

Homo Sapiens Genome Assembly

Gene Function Table

Ortholog Prediction

FlyBase

Phenotypic Information

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