Replicability and Prediction: Lessons and Challenges from GWAS

Research output: Contribution to journalJournal articlepeer-review

Since the publication of the Wellcome Trust Case Control Consortium (WTCCC) landmark study a decade ago, genome-wide association studies (GWAS) have led to the discovery of thousands of risk variants involved in disease etiology. This success story has two angles that are often overlooked. First, GWAS findings are highly replicable. This is an unprecedented phenomenon in complex trait genetics, and indeed in many areas of science, which in past decades have been plagued by false positives. At a time of increasing concerns about the lack of reproducibility, we examine the biological and methodological reasons that account for the replicability of GWAS and identify the challenges ahead. In contrast to the exemplary success of disease gene discovery, at present GWAS findings are not useful for predicting phenotypes. We close with an overview of the prospects for individualized prediction of disease risk and its foreseeable impact in clinical practice.

Original languageEnglish
JournalTrends in Genetics
Issue number7
Pages (from-to)504-517
Number of pages14
Publication statusPublished - 2018
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2018 Elsevier Ltd

    Research areas

  • genetic architecture, genetic risk score, GWAS, prediction, replicability

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