What do we mean by 'replication' and 'validation' in genome-wide association studies?

Hum Hered. 2009;67(1):66-8. doi: 10.1159/000164400. Epub 2008 Oct 17.

Abstract

It has been acknowledged that results from genome-wide association studies need to be reproduced in further independent samples. This includes both aspects of replication and validation. Although often used interchangeably, both of these terms have a specific unique meaning and are not synonyms. Based on a number of applications from the literature producing a certain amount of confusion, our aim therefore is to clarify the definition of 'replication' and 'validation' and propose standards of their usage.

MeSH terms

  • Genome, Human*
  • Genome-Wide Association Study / statistics & numerical data*
  • Humans
  • Reproducibility of Results
  • Research Design*
  • Terminology as Topic
  • Validation Studies as Topic*