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Genes 2014, 5(1), 196-213; doi:10.3390/genes5010196
Review

Association Claims in the Sequencing Era

1
, 1,2,3
, 1
 and 1,3,*
1 Department of Medical Genetics, Institute for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands 2 Division of Pharmacoepidemiology & Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Universiteitsweg 99, 3584 CG, Utrecht, The Netherlands 3 Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands
* Author to whom correspondence should be addressed.
Received: 26 December 2013 / Revised: 24 February 2014 / Accepted: 24 February 2014 / Published: 11 March 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Abstract

Since the completion of the Human Genome Project, the field of human genetics has been in great flux, largely due to technological advances in studying DNA sequence variation. Although community-wide adoption of statistical standards was key to the success of genome-wide association studies, similar standards have not yet been globally applied to the processing and interpretation of sequencing data. It has proven particularly challenging to pinpoint unequivocally disease variants in sequencing studies of polygenic traits. Here, we comment on a number of factors that may contribute to irreproducible claims of association in scientific literature and discuss possible steps that we can take towards cultural change.
Keywords: association; GWAS; next-generation sequencing; significance; bias; complex traits association; GWAS; next-generation sequencing; significance; bias; complex traits
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Pulit, S.L.; Leusink, M.; Menelaou, A.; de Bakker, P.I.W. Association Claims in the Sequencing Era. Genes 2014, 5, 196-213.

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