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Updated: Jun 28, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
GENETICS. The Human Variome Project
Richard G H Cotton1, Arleen D Auerbach, Myles Axton
1Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia. cotton@unimelb.edu.au
Science (New York, N.Y.)
|November 8, 2008
Summary
A new initiative is collecting and organizing data on genetic variations impacting human health. This valuable information is becoming more accessible to researchers worldwide.
Area of Science:
- Genetics
- Bioinformatics
- Genomic Medicine
Background:
- Genetic variations are crucial for understanding human health and disease.
- Previous efforts to consolidate this data have been fragmented.
- A comprehensive resource is needed to accelerate research.
Purpose of the Study:
- To establish a centralized, accessible repository for genetic variation data.
- To facilitate the study of genotype-phenotype relationships.
- To support precision medicine initiatives.
Main Methods:
- Developing robust data collection and curation pipelines.
- Implementing standardized data formats and ontologies.
- Creating user-friendly platforms for data access and analysis.
Main Results:
- Significant progress has been made in data acquisition and integration.
- The initial dataset includes a growing number of genetic variations.
- Early user feedback indicates the platform's utility.
Conclusions:
- The plan to create a comprehensive genetic variation database is progressing.
- This resource promises to be a valuable asset for the scientific community.
- Increased accessibility of genetic data will drive health research forward.
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