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

Bernd Wolfgang Igl, Inke R. König, Andreas Ziegler*

*Corresponding author for this work
33 Citations (Scopus)


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.

Original languageEnglish
JournalHuman Heredity
Issue number1
Pages (from-to)66-68
Number of pages3
Publication statusPublished - 11.2008


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