LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

BK Bulik-Sullivan, PR Loh, HK Finucane, S Ripke… - Nature …, 2015 - nature.com
Both polygenicity (many small genetic effects) and confounding biases, such as cryptic
relatedness and population stratification, can yield an inflated distribution of test statistics in …

Genomic inflation factors under polygenic inheritance

J Yang, MN Weedon, S Purcell, G Lettre… - European journal of …, 2011 - nature.com
Population structure, including population stratification and cryptic relatedness, can cause
spurious associations in genome-wide association studies (GWAS). Usually, the scaled …

Interpreting population-and family-based genome-wide association studies in the presence of confounding

C Veller, GM Coop - PLoS Biology, 2024 - journals.plos.org
A central aim of genome-wide association studies (GWASs) is to estimate direct genetic
effects: the causal effects on an individual's phenotype of the alleles that they carry …

The accuracy of LD Score regression as an estimator of confounding and genetic correlations in genome‐wide association studies

JJ Lee, M McGue, WG Iacono… - Genetic epidemiology, 2018 - Wiley Online Library
To infer that a single‐nucleotide polymorphism (SNP) either affects a phenotype or is
linkage disequilibrium with a causal site, we must have some assurance that any SNP …

A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies

KB Jacobs, M Yeager, S Wacholder, D Craig, P Kraft… - Nature …, 2009 - nature.com
Aggregate results from genome-wide association studies (GWAS),,, such as genotype
frequencies for cases and controls, were until recently often made available on public …

A fully adjusted two‐stage procedure for rank‐normalization in genetic association studies

T Sofer, X Zheng, SM Gogarten, CA Laurie… - Genetic …, 2019 - Wiley Online Library
When testing genotype–phenotype associations using linear regression, departure of the
trait distribution from normality can impact both Type I error rate control and statistical power …

Improving power in genome‐wide association studies: Weights tip the scale

K Roeder, B Devlin… - Genetic Epidemiology: The …, 2007 - Wiley Online Library
The potential of genome‐wide association analysis can only be realized when they have
power to detect signals despite the detrimental effect of multiple testing on power. We …

[PDF][PDF] A versatile gene-based test for genome-wide association studies

JZ Liu, AF Mcrae, DR Nyholt, SE Medland… - The American Journal of …, 2010 - cell.com
We have derived a versatile gene-based test for genome-wide association studies (GWAS).
Our approach, called VEGAS (versatile gene-based association study), is applicable to all …

[PDF][PDF] Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores

F Privé, J Arbel, H Aschard, BJ Vilhjálmsson - Human Genetics and …, 2022 - cell.com
Publicly available genome-wide association studies (GWAS) summary statistics exhibit
uneven quality, which can impact the validity of follow-up analyses. First, we present an …

Rapid variance components–based method for whole-genome association analysis

GR Svishcheva, TI Axenovich, NM Belonogova… - Nature …, 2012 - nature.com
The variance component tests used in genome-wide association studies (GWAS) including
large sample sizes become computationally exhaustive when the number of genetic …