Mendelian randomization

E Sanderson, MM Glymour, MV Holmes… - Nature Reviews …, 2022 - nature.com
Mendelian randomization (MR) is a term that applies to the use of genetic variation to
address causal questions about how modifiable exposures influence different outcomes …

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 …

Mendelian randomization: concepts and scope

RC Richmond, GD Smith - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
Mendelian randomization (MR) is a method of studying the causal effects of modifiable
exposures (ie, potential risk factors) on health, social, and economic outcomes using genetic …

The MRC IEU OpenGWAS data infrastructure

B Elsworth, M Lyon, T Alexander, Y Liu, P Matthews… - BioRxiv, 2020 - biorxiv.org
Data generated by genome-wide association studies (GWAS) are growing fast with the
linkage of biobank samples to health records, and expanding capture of high-dimensional …

[HTML][HTML] Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses

B Brumpton, E Sanderson, K Heilbron… - Nature …, 2020 - nature.com
Estimates from Mendelian randomization studies of unrelated individuals can be biased due
to uncontrolled confounding from familial effects. Here we describe methods for within-family …

Variable prediction accuracy of polygenic scores within an ancestry group

H Mostafavi, A Harpak, I Agarwal, D Conley… - elife, 2020 - elifesciences.org
Fields as diverse as human genetics and sociology are increasingly using polygenic scores
based on genome-wide association studies (GWAS) for phenotypic prediction. However …

Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Using genetics for social science

KP Harden, PD Koellinger - Nature human behaviour, 2020 - nature.com
Social science genetics is concerned with understanding whether, how and why genetic
differences between human beings are linked to differences in behaviours and …

Mendel's laws, Mendelian randomization and causal inference in observational data: substantive and nomenclatural issues

G Davey Smith, MV Holmes, NM Davies… - European journal of …, 2020 - Springer
We respond to criticisms of Mendelian randomization (MR) by Mukamal, Stampfer and Rimm
(MSR). MSR consider that MR is receiving too much attention and should be renamed. We …

Polygenic scores: prediction versus explanation

R Plomin, S Von Stumm - Molecular psychiatry, 2022 - nature.com
During the past decade, polygenic scores have become a fast-growing area of research in
the behavioural sciences. The ability to directly assess people's genetic propensities has …