Database Commons
Database Commons

a catalog of worldwide biological databases

Database Profile

General information

URL: http://www.humanvariomeproject.org
Full name: Human Variome Project
Description: The Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.
Year founded: 2012
Last update: 2018
Version:
Accessibility:
Manual:
Accessible
Real time : Checking...
Country/Region: Greece

Classification & Tag

Data type:
DNA
Data object:
Database category:
Major species:
Keywords:

Contact information

University/Institution: University of Patras
Address: Department of Pharmacy, School of Medicine, University of Patras, University Campus, Rion, GR-265 04, Patras, Greece
City: Patras
Province/State:
Country/Region: Greece
Contact name (PI/Team): George P. Patrinos
Contact email (PI/Helpdesk): gpatrinos@upatras.gr

Publications

22753370
Human Variome Project country nodes: documenting genetic information within a country. [PMID: 22753370]
Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D, International Confederation of Countries Advisory Council.

The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects.

Hum Mutat. 2012:33(11) | 7 Citations (from Europe PMC, 2024-04-20)

Ranking

All databases:
4939/6000 (17.7%)
Genotype phenotype and variation:
699/852 (18.075%)
4939
Total Rank
7
Citations
0.583
z-index

Community reviews

Not Rated
Data quality & quantity:
Content organization & presentation
System accessibility & reliability:

Word cloud

Related Databases

Citing
Cited by

Record metadata

Created on: 2018-01-29
Curated by:
Pei Wang [2018-03-27]
Pei Wang [2018-02-24]