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The Human Variome Project exists to foster communication and collaboration around its central vision: the free and open sharing of genetic variation information to improve public health. We work to ensure that access to information on the changes in our genomes and their effect on the human body is not an impediment to diagnosis and treatment, regardless of where you live or how much you earn.

To do all this, we work together as a global consortium to collaboratively develop international best practices for sharing genetic data in a responsible and efficient manner. Armed with this knowledge, our membrers individually, and in smaller collaborative groups, work within their own countries or professional societies to build new and improve existing data sharing infrastructure.

By working together at the global level to establish the best way forward while cooperating locally to build technical and human capacity, we believe that we can put in place genomic knowledge sharing practices that are ethical, sustainable and integrated into routine clincial practice.

Global Collection Architecture

The Human Variome Project's Global Collection Architecture

The Human Variome Project's ideal world includes a global system for the automated sharing and discovery of our collective genomic knowledge. The Global Collection Architecture is an idealised view of what this might look like.

HVP Country Nodes are responsible for collecting clincially validated genetic variation data from diagnostic laboratories in each country or region of the world. HVP Country Nodes are operated and managed locally, in a manner that respects local ethical, legal and social responsibilities. HVP Country Nodes provide a focal point for HVP related activities in each country, usually in conjunction with the local human genetics societies.

International Gene/Disease Specific Databases collect data from around the world on a single gene or disease, including from all HVP Coutnry Nodes. They provide an expert review function, putting the world's data in front of international experts who use formal review procedures to make a consensus determintation on the functional effect of individual variants.