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 …

Multi-ethnic studies in complex traits

J Fu, EAM Festen, C Wijmenga - Human molecular genetics, 2011 - academic.oup.com
The successes of genome-wide association (GWA) studies have mainly come from studies
performed in populations of European descent. Since complex traits are characterized by …

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

J Yang, T Ferreira, AP Morris, SE Medland… - Nature …, 2012 - nature.com
We present an approximate conditional and joint association analysis that can use summary-
level statistics from a meta-analysis of genome-wide association studies (GWAS) and …

Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

[PDF][PDF] Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort

F Privé, H Aschard, S Carmi, L Folkersen… - The American Journal of …, 2022 - cell.com
The low portability of polygenic scores (PGSs) across global populations is a major concern
that must be addressed before PGSs can be used for everyone in the clinic. Indeed …

[PDF][PDF] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

Meta-GWAS Accuracy and Power (MetaGAP) calculator shows that hiding heritability is partially due to imperfect genetic correlations across studies

R de Vlaming, A Okbay, CA Rietveld… - PLoS …, 2017 - journals.plos.org
Large-scale genome-wide association results are typically obtained from a fixed-effects
meta-analysis of GWAS summary statistics from multiple studies spanning different regions …

A population genetic interpretation of GWAS findings for human quantitative traits

YB Simons, K Bullaughey, RR Hudson, G Sella - PLoS biology, 2018 - journals.plos.org
Human genome-wide association studies (GWASs) are revealing the genetic architecture of
anthropomorphic and biomedical traits, ie, the frequencies and effect sizes of variants that …

[PDF][PDF] The omnigenic model and polygenic prediction of complex traits

I Mathieson - The American Journal of Human Genetics, 2021 - cell.com
The omnigenic model was proposed as a framework to understand the highly polygenic
architecture of complex traits revealed by genome-wide association studies (GWASs). I …