Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …

Testing the significance of a correlation with nonnormal data: comparison of Pearson, Spearman, transformation, and resampling approaches.

AJ Bishara, JB Hittner - Psychological methods, 2012 - psycnet.apa.org
It is well known that when data are nonnormally distributed, a test of the significance of
Pearson's r may inflate Type I error rates and reduce power. Statistics textbooks and the …

Distinguishing genetic correlation from causation across 52 diseases and complex traits

LJ O'Connor, AL Price - Nature genetics, 2018 - nature.com
Mendelian randomization, a method to infer causal relationships, is confounded by genetic
correlations reflecting shared etiology. We developed a model in which a latent causal …

… and the cross-section of expected returns

CR Harvey, Y Liu, H Zhu - The Review of Financial Studies, 2016 - academic.oup.com
Hundreds of papers and factors attempt to explain the cross-section of expected returns.
Given this extensive data mining, it does not make sense to use the usual criteria for …

The poolr package for combining independent and dependent p values

O Cinar, W Viechtbauer - Journal of Statistical Software, 2022 - jstatsoft.org
The poolr package provides an implementation of a variety of methods for pooling (ie,
combining) p values, including Fisher's method, Stouffer's method, the inverse chisquare …

Integrating functional data to prioritize causal variants in statistical fine-mapping studies

G Kichaev, WY Yang, S Lindstrom, F Hormozdiari… - PLoS …, 2014 - journals.plos.org
Standard statistical approaches for prioritization of variants for functional testing in fine-
mapping studies either use marginal association statistics or estimate posterior probabilities …

Extreme polygenicity of complex traits is explained by negative selection

LJ O'Connor, AP Schoech, F Hormozdiari… - The American Journal of …, 2019 - cell.com
Complex traits and common diseases are extremely polygenic, their heritability spread
across thousands of loci. One possible explanation is that thousands of genes and loci have …

Fast and rigorous computation of gene and pathway scores from SNP-based summary statistics

D Lamparter, D Marbach, R Rueedi… - PLoS computational …, 2016 - journals.plos.org
Integrating single nucleotide polymorphism (SNP) p-values from genome-wide association
studies (GWAS) across genes and pathways is a strategy to improve statistical power and …

Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets

MX Li, JMY Yeung, SS Cherny, PC Sham - Human genetics, 2012 - Springer
Current genome-wide association studies (GWAS) use commercial genotyping microarrays
that can assay over a million single nucleotide polymorphisms (SNPs). The number of SNPs …

[HTML][HTML] Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

arcOGEN Consortium, arcOGEN Collaborators - The Lancet, 2012 - Elsevier
BACKGROUND: Osteoarthritis is the most common form of arthritis worldwide and is a major
cause of pain and disability in elderly people. The health economic burden of osteoarthritis …