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

Julia Wang; Zhandong Liu; Hugo  J. Bellen; Shinya Yamamoto

doi:10.3791/59542

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Genetik

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

JoVE Journal
Genetik

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JoVE Journal Genetik

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

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9,617 Views

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09:37 min

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August 15, 2019

DOI:

10.3791/59542-v

DOI:

10.3791/59542-v

•

09:37 min

August 15, 2019

•

5 Views

Julia Wang^1,2, Zhandong Liu^3,4, Hugo J. Bellen^1,4,5,6,7, Shinya Yamamoto^1,4,5,6

¹Program in Developmental Biology,Baylor Tıp Fakültesi, ²Medical Scientist Training Program,Baylor Tıp Fakültesi, ³Pediatri Anabilim Dalı,Baylor Tıp Fakültesi, ⁴Jan and Dan Duncan Neurological Research Institute,Texas Children’s Hospital, ⁵Department of Molecular and Human Genetics,Baylor Tıp Fakültesi, ⁶Nörobilim Bölümü,Baylor Tıp Fakültesi, ⁷Howard Hughes Medical Institute,Baylor Tıp Fakültesi

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Özet

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.

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MARRVEL Human Genomics Model Organism Genetics Rare Genetic Diseases Disease Relevance Biomedical Fields Gene Variant Search HGNC Website Exome Aggregation Consortium Genome Aggregation Database Homo Sapiens Genome Assembly Gene Function Table Ortholog Prediction FlyBase Phenotypic Information

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

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