Meta-analysis methods for genome-wide association studies and beyond

E Evangelou, JPA Ioannidis - Nature Reviews Genetics, 2013 - nature.com
Meta-analysis of genome-wide association studies (GWASs) has become a popular method
for discovering genetic risk variants. Here, we overview both widely applied and newer …

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

MI McCarthy, GR Abecasis, LR Cardon… - Nature reviews …, 2008 - nature.com
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …

Increasing value and reducing waste in research design, conduct, and analysis

JPA Ioannidis, S Greenland, MA Hlatky, MJ Khoury… - The Lancet, 2014 - thelancet.com
Correctable weaknesses in the design, conduct, and analysis of biomedical and public
health research studies can produce misleading results and waste valuable resources …

Why most discovered true associations are inflated

JPA Ioannidis - Epidemiology, 2008 - journals.lww.com
Newly discovered true (non-null) associations often have inflated effects compared with the
true effect sizes. I discuss here the main reasons for this inflation. First, theoretical …

[HTML][HTML] The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care …

MJ Khoury, M Gwinn, PW Yoon, N Dowling… - Genetics in …, 2007 - Elsevier
Advances in genomics have led to mounting expectations in regard to their impact on health
care and disease prevention. In light of this fact, a comprehensive research agenda is …

Assessment of cumulative evidence on genetic associations: interim guidelines

JPA Ioannidis, P Boffetta, J Little… - International journal …, 2008 - academic.oup.com
Established guidelines for causal inference in epidemiological studies may be inappropriate
for genetic associations. A consensus process was used to develop guidance criteria for …

What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations

OA Panagiotou, JPA Ioannidis… - International journal …, 2012 - academic.oup.com
Background Robust replication is a sine qua non for the rigorous documentation of
proposed associations in the genome-wide association (GWA) setting. Currently …

Validating, augmenting and refining genome-wide association signals

JPA Ioannidis, G Thomas, MJ Daly - Nature Reviews Genetics, 2009 - nature.com
Studies using genome-wide platforms have yielded an unprecedented number of promising
signals of association between genomic variants and human traits. This Review addresses …

The emergence of translational epidemiology: from scientific discovery to population health impact

MJ Khoury, M Gwinn… - American journal of …, 2010 - academic.oup.com
Recent emphasis on translational research (TR) is highlighting the role of epidemiology in
translating scientific discoveries into population health impact. The authors present …

Meta-analysis in genome-wide association studies

E Zeggini, JPA Ioannidis - Pharmacogenomics, 2009 - Taylor & Francis
The advent of genome-wide association studies has allowed considerable progress in the
identification and robust replication of common gene variants that confer susceptibility to …