The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases
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 …
association in genetic studies. However, it is conceivable that complex traits are …
Statistical significance in genetic association studies
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 …
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 …
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 …
common human diseases. A well-known problem with such studies is the presence of …
HGVbaseG2P: a central genetic association database
Abstract The Human Genome Variation database of Genotype to Phenotype information
(HGVbaseG2P) is a new central database for summary-level findings produced by human …
(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 …
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 …
trillions of candidate analyses. Red herrings are unavoidably common, and bias might …
Bioinformatics challenges for genome-wide association studies
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 …
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
Empirical evidences suggest that both common and rare variants contribute to complex
disease etiology. Although the effects of common variants have been thoroughly assessed …
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?
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 …
human genome, genome-wide association studies are now becoming a reality. In this paper …