Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans

Y Bossé, F Bacot, A Montpetit, J Rung, HQ Qu… - Human genetics, 2009 - Springer
The success of genome-wide association studies (GWAS) to identify risk loci of complex
diseases is now well-established. One persistent major hurdle is the cost of those studies …

Genome-wide eQTLs and heritability for gene expression traits in unrelated individuals

S Yang, Y Liu, N Jiang, J Chen, L Leach, Z Luo… - BMC genomics, 2014 - Springer
Background While the possible sources underlying the so-called 'missing heritability'evident
in current genome-wide association studies (GWAS) of complex traits have been actively …

Underestimated effect sizes in GWAS: fundamental limitations of single SNP analysis for dichotomous phenotypes

S Stringer, NR Wray, RS Kahn, EM Derks - PloS one, 2011 - journals.plos.org
Complex diseases are often highly heritable. However, for many complex traits only a small
proportion of the heritability can be explained by observed genetic variants in traditional …

Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates

E Uffelmann, D Posthuma, WJ Peyrot - Scientific reports, 2023 - nature.com
Gouveia and colleagues (2022) 1 conducted a genome-wide association study (GWAS) of a
polygenic risk score (PRS)-derived phenotype (N= 37,784), in which they identified 246 …

Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies

K Siontis, NA Patsopoulos, J Ioannidis - European Journal of Human …, 2010 - nature.com
Genome-wide association studies (GWASs) have created a paradigm shift in discovering
genetic associations for common diseases and phenotypes, but it is unclear whether the …

[PDF][PDF] Local genetic correlation gives insights into the shared genetic architecture of complex traits

H Shi, N Mancuso, S Spendlove, B Pasaniuc - The American Journal of …, 2017 - cell.com
Although genetic correlations between complex traits provide valuable insights into
epidemiological and etiological studies, a precise quantification of which genomic regions …

Multiple phenotype association tests using summary statistics in genome‐wide association studies

Z Liu, X Lin - Biometrics, 2018 - Wiley Online Library
We study in this article jointly testing the associations of a genetic variant with correlated
multiple phenotypes using the summary statistics of individual phenotype analysis from …

Gene set analysis of SNP data: benefits, challenges, and future directions

BL Fridley, JM Biernacka - European Journal of Human Genetics, 2011 - nature.com
The last decade of human genetic research witnessed the completion of hundreds of
genome-wide association studies (GWASs). However, the genetic variants discovered …

[PDF][PDF] HYST: a hybrid set-based test for genome-wide association studies, with application to protein-protein interaction-based association analysis

MX Li, JSH Kwan, PC Sham - The American Journal of Human Genetics, 2012 - cell.com
The extended Simes' test (known as GATES) and scaled chi-square test were proposed to
combine a set of dependent genome-wide association signals at multiple single-nucleotide …

[PDF][PDF] A multi-SNP locus-association method reveals a substantial fraction of the missing heritability

GB Ehret, D Lamparter, CJ Hoggart… - The American Journal of …, 2012 - cell.com
There are many known examples of multiple semi-independent associations at individual
loci; such associations might arise either because of true allelic heterogeneity or because of …