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 …

Prospective study design and data analysis in UK Biobank

NE Allen, B Lacey, DA Lawlor, JP Pell… - Science translational …, 2024 - science.org
Population-based prospective studies, such as UK Biobank, are valuable for generating and
testing hypotheses about the potential causes of human disease. We describe how UK …

Participation bias in the UK Biobank distorts genetic associations and downstream analyses

T Schoeler, D Speed, E Porcu, N Pirastu… - Nature Human …, 2023 - nature.com
While volunteer-based studies such as the UK Biobank have become the cornerstone of
genetic epidemiology, the participating individuals are rarely representative of their target …

Collider bias undermines our understanding of COVID-19 disease risk and severity

GJ Griffith, TT Morris, MJ Tudball, A Herbert… - Nature …, 2020 - nature.com
Numerous observational studies have attempted to identify risk factors for infection with
SARS-CoV-2 and COVID-19 disease outcomes. Studies have used datasets sampled from …

Elevated rates of autism, other neurodevelopmental and psychiatric diagnoses, and autistic traits in transgender and gender-diverse individuals

V Warrier, DM Greenberg, E Weir… - Nature …, 2020 - nature.com
It is unclear whether transgender and gender-diverse individuals have elevated rates of
autism diagnosis or traits related to autism compared to cisgender individuals in large non …

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 …

Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis

S Haworth, R Mitchell, L Corbin, KH Wade… - Nature …, 2019 - nature.com
Large studies use genotype data to discover genetic contributions to complex traits and infer
relationships between those traits. Co-incident geographical variation in genotypes and …

Studying the genetics of participation using footprints left on the ascertained genotypes

S Benonisdottir, A Kong - Nature Genetics, 2023 - nature.com
The trait of participating in a genetic study probably has a genetic component. Identifying this
component is difficult as we cannot compare genetic information of participants with …

Genetic analyses identify widespread sex-differential participation bias

N Pirastu, M Cordioli, P Nandakumar, G Mignogna… - Nature Genetics, 2021 - nature.com
Genetic association results are often interpreted with the assumption that study participation
does not affect downstream analyses. Understanding the genetic basis of participation bias …

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 …