[HTML][HTML] Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

[PDF][PDF] 15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett… - Nature …, 2022 - nature.com
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …

[HTML][HTML] Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

LJ Howe, MG Nivard, TT Morris, AF Hansen… - Nature …, 2022 - nature.com
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …

[HTML][HTML] Gene–environment correlations across geographic regions affect genome-wide association studies

A Abdellaoui, CV Dolan, KJH Verweij, MG Nivard - Nature Genetics, 2022 - nature.com
Gene–environment correlations affect associations between genetic variants and complex
traits in genome-wide association studies (GWASs). Here we showed in up to 43,516 British …

Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction

R Karlsson Linnér, TT Mallard, PB Barr… - Nature …, 2021 - nature.com
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …

[HTML][HTML] Problems with using polygenic scores to select embryos

P Turley, MN Meyer, N Wang, D Cesarini… - … England Journal of …, 2021 - Mass Medical Soc
Companies have recently begun to sell a new service to patients considering in vitro
fertilization: embryo selection based on polygenic scores (ESPS). These scores represent …

[HTML][HTML] Mendelian imputation of parental genotypes improves estimates of direct genetic effects

AI Young, SM Nehzati, S Benonisdottir, A Okbay… - Nature Genetics, 2022 - nature.com
Abstract Effects estimated by genome-wide association studies (GWASs) include effects of
alleles in an individual on that individual (direct genetic effects), indirect genetic effects (for …

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 …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …