The Human Variome Project (HVP) is the global initiative to collect and curate all

human Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...

genetic variation Genetic variation is the difference in DNA among individuals or the differences between populations. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, b ...

affecting human health. Its mission is to improve health outcomes by facilitating the unification of data on human genetic variation and its impact on human health.

Inception

The HVP concept was conceived by Richard Cotton, a leader in the field of

. His group, the Genomic Disorders Research Centre, based at the

University of Melbourne The University of Melbourne is a public research university located in Melbourne, Australia. Founded in 1853, it is Australia's second oldest university and the oldest in Victoria. Its main campus is located in Parkville, an inner suburb no ...

and St. Vincent's Hospital, has established a consortium that covers genomic variation and its health implications in a comprehensive form. This consortium has encouraged the creation and supported many of the 571 gene specific variation databases currently available on the

internet The Internet (or internet) is the global system of interconnected computer networks that uses the Internet protocol suite (TCP/IP) to communicate between networks and devices. It is a '' network of networks'' that consists of private, p ...

. However, these databases are of varying completeness and individualistic, so the Human Variome Project was born to establish a central project to encourage the collection and sourcing of this data, verifying it and ultimately using it for improved health outcomes. Geneticists, diagnosticians, researchers and bioinformatics scientists came together in June 2006 at the Human Variome Project Meeting, organized by Cotton’s team, and agreed to take on the task of organising data collection and unifying the systems of data access and storage. This initiative builds on substantial pilot work and achievements of the Human Genome Variation Society. The authority of those initiating this project is evidenced by the fact that major international bodies were present. These included

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European Commission The European Commission (EC) is the executive of the European Union (EU). It operates as a cabinet government, with 27 members of the Commission (informally known as "Commissioners") headed by a President. It includes an administrative body ...

UNESCO The United Nations Educational, Scientific and Cultural Organization is a specialized agency of the United Nations (UN) aimed at promoting world peace and security through international cooperation in education, arts, sciences and culture. It ...

March of Dimes March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies. The organization was founded by President Franklin D. Roosevelt in 1938, as the National Foundation for Infantile Paralysis, to comba ...

(US),

Centers for Disease Control and Prevention The Centers for Disease Control and Prevention (CDC) is the national public health agency of the United States. It is a United States federal agency, under the Department of Health and Human Services, and is headquartered in Atlanta, Georg ...

(US),

Google Google LLC () is an American multinational technology company focusing on search engine technology, online advertising, cloud computing, computer software, quantum computing, e-commerce, artificial intelligence, and consumer electronic ...

, representatives of two dozen international genetics bodies, numerous genetics journals, 20 countries and Australian

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and

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. This major international project, a natural partner to the

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ph ...

, will require substantial funding to get it to a sustainable position. A five-year secure budget period of approximately US$12m per year has been proposed to initiate the project. This will enable the project to be organized and find operational funds for the tasks of system development,

informatics Informatics is the study of computational systems, especially those for data storage and retrieval. According to ACM ''Europe and'' ''Informatics Europe'', informatics is synonymous with computer science and computing as a profession, in whic ...

database In computing, a database is an organized collection of data stored and accessed electronically. Small databases can be stored on a file system, while large databases are hosted on computer clusters or cloud storage. The design of databases sp ...

curation and clinical access as well as collection systems that are open and accessible to all. The Human Variome Project seeks to provide open access to the full realm of

for the benefit of everyone. The Centre for Arab Genomic Studies (CAGS) has initiated efforts to proceed with the Arab Human Variome Project under the Human Variome Project. CAGS was one of the participants of the HVP meeting in Melbourne. Since then, several meetings have been held between officials of HVP and CAGS members to discuss the nature of work involved.

References

{{Reflist

External links

Official Project website
Human genome projects Population genetics organizations

Inception

See also

References

External links