Understanding the Assumptions Underlying Instrumental Variable Analyses: a Brief Review of Falsification Strategies and Related Tools


Causal investigations in genetics have evolved from agnostic discovery in genome-wide association studies (GWAS) to functional annotation and instrumental variable-informed inference (ie, mendelian randomisation). In the past decade, big data resources, such as the UK Biobank, have prompted a return to broader discovery through phenome-wide association studies (PheWAS). The work by Elina Hypponen and colleagues in The Lancet Digital Health, joins a small body of studies, using polygenic risk scores to search for causal effects of an intermediate phenotype such as body-mass index (BMI) on many outcomes, thereby applying mendelian randomisation across the phenome.

Current Epidemiology Reports
Jeremy A. Labrecque
Assistant professor, Epidemiology and causal inference

My research is on how we know what we know.