The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases

M Manchia, J Cullis, G Turecki, GA Rouleau, R Uher… - PloS one, 2013 - journals.plos.org
Phenotypic misclassification (between cases) has been shown to reduce the power to detect
association in genetic studies. However, it is conceivable that complex traits are …

Statistical significance in genetic association studies

HQ Qu, M Tien, C Polychronakos - Clinical and investigative …, 2010 - utpjournals.press
Clinical & Investigative Medicine (CIM) is receiving an increasing number of reports of
candidate-based association studies. The track record of such studies in the past has been …

Missing heritability of complex diseases: case solved?

E Génin - Human genetics, 2020 - Springer
About 10 years ago, after the first large-scale genome-wide association studies (GWAS)
were conducted to find genes associated with common complex diseases, investigators …

The effects of human population structure on large genetic association studies

J Marchini, LR Cardon, MS Phillips, P Donnelly - Nature genetics, 2004 - nature.com
Large-scale association studies hold substantial promise for unraveling the genetic basis of
common human diseases. A well-known problem with such studies is the presence of …

HGVbaseG2P: a central genetic association database

GA Thorisson, O Lancaster, RC Free… - Nucleic acids …, 2009 - academic.oup.com
Abstract The Human Genome Variation database of Genotype to Phenotype information
(HGVbaseG2P) is a new central database for summary-level findings produced by human …

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

KE Lohmueller, CL Pearce, M Pike, ES Lander… - Nature …, 2003 - nature.com
Association studies offer a potentially powerful approach to identify genetic variants that
influence susceptibility to common disease 1, 2, 3, 4, but are plagued by the impression that …

Genetic associations: false or true?

JPA Ioannidis - Trends in molecular medicine, 2003 - cell.com
Genetic association studies for multigenetic diseases are like fishing for the truth in a sea of
trillions of candidate analyses. Red herrings are unavoidably common, and bias might …

Bioinformatics challenges for genome-wide association studies

JH Moore, FW Asselbergs, SM Williams - Bioinformatics, 2010 - academic.oup.com
Motivation: The sequencing of the human genome has made it possible to identify an
informative set of> 1 million single nucleotide polymorphisms (SNPs) across the genome …

To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests

Y Li, AE Byrnes, M Li - The American Journal of Human Genetics, 2010 - cell.com
Empirical evidences suggest that both common and rare variants contribute to complex
disease etiology. Although the effects of common variants have been thoroughly assessed …

Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

C Bourgain, E Génin, N Cox… - European journal of …, 2007 - nature.com
With the availability of dense maps of anonymous and frequent SNPs spanning the whole
human genome, genome-wide association studies are now becoming a reality. In this paper …