Integration of the evidence on gene–disease associations: methods of HuGE reviews

Abstract

Human Genome Epidemiology (HuGE) reviews have been a cornerstone of the efforts of the Human Genome Epidemiology Network (HuGENet) to develop an online resource to house the cumulative and changing information on epidemiologic aspects of human genes. HuGE reviews may collate evidence on population frequencies of genetic variants, genotype-phenotype associations, interactions among genes and between genes, and environmental exposures, or a combination of these. More than 70 HuGE reviews have been completed under the auspices of HuGENet, with more than 80 in preparation at the time of writing. This chapter explains what HuGE reviews aim to achieve and describes some key components of the methodology for undertaking them. The material is also directly relevant to reviews and meta-analysis of genetic association studies undertaken by groups outside of HuGENet.