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Hypothesis Center
Model organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL)
WHAT IS IT?
MARRVEL is a web tool to search multiple public variant databases simultaneously and provide a unified interface to facilitate the search process. It is used for integration of human and model organism genetic resources to facilitate functional annotation of the human genome. It is used for analysis of human genes and variants by cross-disciplinary integration of records available in public databases to facilitate clinical diagnosis and basic research.
WHO CAN USE IT?
Researchers who would like to study potentially pathogenic variants in patients with rare or undiagnosed diseases.
WHAT TYPE OF QUESTIONS CAN IT ANSWER?
Which gene/its variants is likely to be the cause of a rare Mendelian Disorder?
What is the probable disease mechanism?
Do we have an animal model for the rare disease?
ON-DEMAND WEBINAR
Solving the Undiagnosed Diseases through Machine Learning
In this webinar, Undiagnosed Diseases Network (UDN) project is introduced. You will learn about MARRVEL, a systematic and comprehensive search engine, and MARRVEL-AI, a knowledge-based and explainable artificial intelligent system to prioritize and identify novel disease-causing coding variants.
INTERESTED IN LEARNING HOW TO USE MARRVEL?
Tutorials at dkNET Hypothesis Center
Watch these additional video tutorials provided at MARRVEL website: http://marrvel.org/faq
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How do I use MARRVEL? https://youtu.be/AKp9AByfuo4
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FAQ page at MARRVEL website: http://marrvel.org/faq
READ MORE
Wang J*, Al-Ouran R*, Hu Y*, Kim S-Y*, Wan Y-W, Wangler MF, Yamamoto S, Chao H-T, Comjean A, Mohr SE, UDN, Perrimon N, Liu Z, Bellen HJ. “MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.” The American Journal of Human Genetics 100, 1–11, 2017 June 1. doi:10.1016/j.ajhg.2017.04.010
Wang, J., Mao, D., Fazal, F., Kim, S.Y., Yamamoto, S., Bellen, H. and Liu, Z., 2019. Using MARRVEL v1. 2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Current Protocols in Bioinformatics, 67(1), p.e85, DOI: 10.1002/cpbi.85. PubMed PMID: 31524990; PubMed Central PMCID: PMC6750039.
Wang J, Undiagnosed Diseases Network, Liu Z, Bellen HJ, Yamamoto S. Navigating MARRVEL, a Web-Based Tool That Integrates Human Genomics and Model Organism Genetics Information. J Vis Exp. 2019 Aug 15;(150). doi: 10.3791/59542. PubMed PMID: 31475990.
About
The NIDDK Information Network (dkNET) serves the needs of basic and clinical investigators by providing seamless access to large pools of data and research resources relevant to the mission of The National Institute of Diabetes Digestive and Kidney Diseases (NIDDK). dkNET is hosted at University of California San Diego, and is supported by NIH NIDDK grant 2U24DK097771-09.
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