Biobanks and biobank harmonisation

Paul R. Burton*, Isabel Fortier, Mylene Deschênes, Anna Hansell, Lyle J. Palmer

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Citations (Scopus)


Over the past decade and a half, genetic epidemiology has experienced an important shift from family-based studies of genetic linkage to individual-based studies of genetic association (Chapters One-Four). In part, this follows the recognition that if the 'common disease, common variant hypothesis'1-5 is true for at least a proportion of important genetic determinants of complex disease, these determinants - which will predominantly exhibit weak aetiological effects6 - will be identified more easily using association studies of population-based samples7. The shift to using association studies has been accompanied by an increasing methodological focus on optimal approaches to the design, analysis, meta-analysis and reporting of genetic association studies8-15; 65-67 ( hugenet/strega.htm). This chapter describes these changes, and the growing international focus on biobanks with which they are associated.

Original languageEnglish
Title of host publicationAn Introduction to Genetic Epidemiology
PublisherPolicy Press
Number of pages20
ISBN (Electronic)9781447342847
ISBN (Print)9781861348975
Publication statusPublished - 31 May 2011
Externally publishedYes


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