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Open Access Research article

Online genetic databases informing human genome epidemiology

Angela J Frodsham1* and Julian PT Higgins12

Author Affiliations

1 Public Health Genetics Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK

2 Medical Research Council Biostatistics Unit, Institute of Public Health, University of Cambridge, Cambridge, CB2 0SR, UK

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BMC Medical Research Methodology 2007, 7:31  doi:10.1186/1471-2288-7-31

Published: 4 July 2007

Abstract

Background

With the advent of high throughput genotyping technology and the information available via projects such as the human genome sequencing and the HapMap project, more and more data relevant to the study of genetics and disease risk will be produced. Systematic reviews and meta-analyses of human genome epidemiology studies rely on the ability to identify relevant studies and to obtain suitable data from these studies. A first port of call for most such reviews is a search of MEDLINE. We examined whether this could be usefully supplemented by identifying databases on the World Wide Web that contain genetic epidemiological information.

Methods

We conducted a systematic search for online databases containing genetic epidemiological information on gene prevalence or gene-disease association. In those containing information on genetic association studies, we examined what additional information could be obtained to supplement a MEDLINE literature search.

Results

We identified 111 databases containing prevalence data, 67 databases specific to a single gene and only 13 that contained information on gene-disease associations. Most of the latter 13 databases were linked to MEDLINE, although five contained information that may not be available from other sources.

Conclusion

There is no single resource of structured data from genetic association studies covering multiple diseases, and in relation to the number of studies being conducted there is very little information specific to gene-disease association studies currently available on the World Wide Web. Until comprehensive data repositories are created and utilized regularly, new data will remain largely inaccessible to many systematic review authors and meta-analysts.