Recommendations of the 2006 Human Variome Project meeting

Area of Science:

• Genomics
• Human Genetics
• Bioinformatics

Background:

• Genomic DNA variation data is crucial for diagnostics and research but lacks standardization.
• Existing curated lists of genetic variations are difficult to use due to poor coordination.
• A need exists for standard criteria for human genome variation databases and a universally accessible system.

Framework:

• The Human Variome Project was established at a WHO-cosponsored meeting in Melbourne, Australia.
• The project addresses the collection and effects of human genetic variation across multiple domains.
• Eight sessions covered clinic, diagnostics, research, curation, informatics, global relevance, integration, and funding.

Implementation:

• The meeting generated 96 recommendations to guide worldwide efforts in human variation data management.
• These recommendations form a foundation for future global collaboration.
• The project aims to integrate and federate disparate data sources.

Implications:

• Standardized variation data will improve the utility of genomic information in clinical and research settings.
• A universally accessible system will enhance the completeness and accuracy of variant ascertainment.
• The project facilitates a global approach to understanding human genetic diversity and its impact.