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

作者： 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

简介：

Overview

This article presents a protocol for efficiently accessing and analyzing human and model organism databases using MARRVEL. The protocol highlights the analysis of candidate disease-causing variants identified through next-generation sequencing.

Key Study Components

Area of Science

• Genetics
• Bioinformatics
• Model Organism Research

Background

• MARRVEL.org aggregates disease relevance information for human genes.
• The tool focuses on rare genetic diseases and model organism data.
• It significantly reduces the time required to gather genetic information.
• Users include physicians and scientists across various biomedical fields.

Purpose of Study

• To streamline the process of genetic variant analysis.
• To provide a comprehensive overview of gene functions across species.
• To facilitate diagnosis and therapeutic exploration.

Methods Used

• Utilization of MARRVEL for gene and variant searches.
• Accessing model organism data through hyperlinked gene pages.
• Employing Gene Ontology terms for functional analysis.
• Comparative analysis of phenotypes using Monarch Initiative.

Main Results

• MARRVEL provides rapid access to genetic information.
• Users can explore gene expression patterns across different organisms.
• The tool supports identification of orthologs and paralogs.
• Data is linked to relevant publications and resources.

Conclusions

• MARRVEL is an essential tool for genetic research.
• It enhances the efficiency of genetic variant analysis.
• The platform is continuously evolving to support diverse research needs.

Frequently Asked Questions