Replicability and Prediction: Lessons and Challenges from GWAS
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Replicability and Prediction : Lessons and Challenges from GWAS. / Marigorta, Urko M.; Rodríguez, Juan Antonio; Gibson, Greg; Navarro, Arcadi.
I: Trends in Genetics, Bind 34, Nr. 7, 2018, s. 504-517.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Replicability and Prediction
T2 - Lessons and Challenges from GWAS
AU - Marigorta, Urko M.
AU - Rodríguez, Juan Antonio
AU - Gibson, Greg
AU - Navarro, Arcadi
N1 - Publisher Copyright: © 2018 Elsevier Ltd
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - genetic architecture
KW - genetic risk score
KW - GWAS
KW - prediction
KW - replicability
U2 - 10.1016/j.tig.2018.03.005
DO - 10.1016/j.tig.2018.03.005
M3 - Journal article
C2 - 29716745
AN - SCOPUS:85046115949
VL - 34
SP - 504
EP - 517
JO - Trends in Genetics
JF - Trends in Genetics
SN - 0168-9525
IS - 7
ER -
ID: 327322692