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HuGE Reviews

Systematic review and synthesis of research findings is a crucial component of human genome epidemiology. A HuGE Review identifies human genetic variants at one or more loci; summarizes what is known about the frequency of these variants in different populations; and describes associations of these variants with disease, as well as their interactions with other known risk factors. 
HuGE Reviews are distinguished by several key characteristics.  In particular, they:  

  1. Describe population-based data, typically collected in case-control or cohort studies. 
  2. Use a systematic search strategy to identify relevant data.
  3. Employ statistical methods, such as meta-analysis, to integrate results from multiple studies. 
  4. Assess cumulative evidence for epidemiologic credibility.
  5. Present genetic research findings in a population context.
  6. Highlight knowledge gaps to stimulate useful research.

A HuGE Review provides a starting point for analyzing the clinical validity of a genetic test based on evidence from genetic association studies.


Quick Search

Search the HuGE Navigator for HuGE Reviews.


Guidelines for writing a HuGE review

HuGENet published the HuGENet™ Handbook of Systematic Reviews [PDF 166KB] in March 2006. Authors should also apply the Venice guidelines [PDF 116KB] to rate the credibility of cumulative evidence.


Publishing a HuGE review

The journals listed below will consider well conducted HuGE Reviews for publication. Authors should indicate that the manuscript is a HuGE Review when submitting it to a journal. Submissions should comply with the journal instructions to authors.
The following journals will consider HuGE Reviews for publication:

Human genome epidemiologic reviews: the beginning of something HuGE
Khoury MJ, Little J.
American Journal of Epidemiology 2000; 151:2-3

The integration of genomics into obstetrics and gynecology: A HuGE challenge
Khoury MJ, Romero R.
American Journal of Obstetrics and Gynecology 2006; 195:1503-5

Dermatology and the human genome: an epidemiologic approach.
Gwinn M, Khoury MJ.
Archives of Dermatology 2007 Sep;143(9):1194-6.

Genetic association studies of cancer: where do we go from here?
Rebbeck TR, Khoury MJ, Potter JD.
Cancer Epidemiology Biomarkers and Prevention  2007;16(5):864-5

HuGE reviews and meta-analysis of gene association studies
El–Serag H, Associate Editor, Khoury MJ, Centers for Disease Control and Prevention and Lewis JD, Associate Editor
Gastroenterology 2007; 132(3):839-840

Human Genome Epidemiology (HuGE): translating advances in human genetics into population-based data for medicine and public health  [PDF 142 KB]
Khoury MJ.
Genetics in Medicine 1999; 1:71-73

Make it HuGE: human genome epidemiology reviews, population health, and the IJE
Smith GD, Gwinn M, Ebrahim S, Palmer LJ, Khoury MJ.
International Journal of Epidemiology 2006; 35(3):507-510

The integration of genomics into paediatric and perinatal epidemiology: guidelines for submitting human genome epidemiology (HuGE) reviews.
Khoury MJ.
Paediatric and Perinatal Epidemiology 2005 May;19(3):178-80.


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