1. ESRC Genomics Network (archive)
  2. Gengage
  3. The Human Genre Project

Cesagen · Research

Genome Wide Association Studies

Adrian Mackenzie

Start date



This project is a meta-analysis of the Genome Wide Association Studies (GWAS) in the context of human health and medicine. GWAS studies, while largely untranslated into clinical medicine, have afforded the growth of personal genomics, and direct-to-consumer genetic tests.


The research seeks to explore the rapid and abundant growth in GWAS studies from several perspectives, ranging from the geographic distribution, the range of topics and problems addressed by GWAS, and particularly, the shifts in notions of prediction, heritability and variability associated with these techniques. The broader setting for this study comes from notions of discovery science and data intensive science. However, the project also examines GWAS from the perspective of changes in the statistical power of genomics science. The connections between prediction, expectations and hopes are core concerns.


The research is conducted by textual analysis techniques, including corpus linguistics and bibliometric approaches, brought to bear on a corpus of scientific texts gathered through a systematic literature review. ‘Documents’ being analysed include research publications, public discourses, software and the visual representation of the research and the field. The analysis focuses on how GWAS has become established as a key technique, how GWAS disseminates through the close relationships with laboratories, pharmaceutical industries, hospitals, and GWAS public understanding of sciences and various visual representation for the dissemination of results.

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