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Public Health Genomics Program Review

4.3 Human Genome Epidemiology Network (HuGENet™)

HuGENet™ Collaboration

HuGENet™ has continued to grow as an open collaboration of individuals and organizations from around the world. In FY2007, a HuGENet™ Short Course was offered in the United Kingdom and a HuGENet™ Workshop on the Assessment of Cumulative Evidence on Genetic Associations was held in Italy.

HuGE Publications

HuGENet™ has a leadership role in promoting study approaches and methods that lead to synthesis and translation of population-based genomic research data. In FY2007, HuGENet™ collaborators published 14 articles on these topics in scientific journals, including the American Journal of Epidemiology, the International Journal of Epidemiology, and PLoS Medicine.


Ioannidis JPA, Boffetta P, Little J, O’Brien TR, Uitterlinden AG, Vineis P, et al. Assessment of Cumulative Evidence on Genetic Associations: Interim Guidelines. Int J Epidemiol 2007;Sep 26 [Epub ahead of print].

Yu W, Yesupriya A, Wulf A, Qu J, Khoury MJ, and Gwinn M. An open source infrastructure for managing knowledge and finding potential collaborators in a domain-specific subset of PubMed, with an example from human genome epidemiology. BMC Bioinformatics 2007;8:436.

HuGE Reviews

HuGE Reviews are systematic, peer-reviewed assessments of gene-disease association studies conducted by health researchers affiliated with the Human Genome Epidemiology Network (HuGENet™). HuGE Reviews typically point to gaps in existing epidemiologic and clinical knowledge, thus stimulating further research in these areas. These reviews are published in partnership with 10 scientific journals. In FY2007, 11 HuGE Reviews were published by authors affiliated with institutions in the U.S. and five other countries, reflecting the global reach of HuGENet™. Through special agreements with the journals, HuGE reviews are available free of charge on the HuGENet™ web pages of OPHG’s Web site. (As of July 2009, we now supply links to abstracts in PubMed.)

HuGE Navigator

In September 2007, OPHG launched the HuGE Navigator, which is an up-to-date online knowledge base on human genome epidemiology, including information on the population prevalence of genetic variants, gene-disease associations, gene-gene and gene-environment interactions, and the evaluation of genetic tests. HuGE Navigator is intended primarily for researchers in public health genomics and other related disciplines and includes the following applications:

  • HuGE Literature Finder, a database curated by OPHG that includes abstracts from approximately 30,000 published articles on human genome epidemiology, extracted from PubMed. These articles reference about 3,000 genes and 3,500 diseases and conditions.
  • HuGE Investigator Browser, which allows users to identify investigators in a particular field of human genome epidemiology.
  • GeneSelectAssist, a search engine for finding possible candidate genes based on the NCBI Entrez Gene, PubMed and HuGE Pub Lit databases.
  • HuGE Risk Translator, a tool for calculating the expected predictive value of genetic markers.
  • HuGE Watch, a tool for tracking the evolution of published literature in
    human genome epidemiology.
  • HuGEpedia, an online encyclopedia of human genetic variation and health information that is currently in development.

HuGE Navigator can be accessed at (


Yu W, Yesupriya A, Wulf A, Qu J, Gwinn M, Khoury MJ. An automatic method to generate domain-specific investigator networks using PubMed abstracts. BMC Med Inform Decis Mak 2007; 20:7:17.


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