Using genetic data to strengthen causal inference in observational research

JB Pingault, PF O'reilly, T Schoeler… - Nature Reviews …, 2018 - nature.com
Causal inference is essential across the biomedical, behavioural and social sciences. By
progressing from confounded statistical associations to evidence of causal relationships …

Causal inference with genetic data: Past, present, and future

JB Pingault, R Richmond… - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
The set of methods discussed in this collection has emerged from the convergence of two
scientific fields—genetics and causal inference. In this introduction, we discuss relevant …

Validating, augmenting and refining genome-wide association signals

JPA Ioannidis, G Thomas, MJ Daly - Nature Reviews Genetics, 2009 - nature.com
Studies using genome-wide platforms have yielded an unprecedented number of promising
signals of association between genomic variants and human traits. This Review addresses …

Orienting the causal relationship between imprecisely measured traits using GWAS summary data

G Hemani, K Tilling, G Davey Smith - PLoS genetics, 2017 - journals.plos.org
Inference about the causal structure that induces correlations between two traits can be
achieved by combining genetic associations with a mediation-based approach, as is done in …

Identifying causal variants at loci with multiple signals of association

F Hormozdiari, E Kostem, EY Kang… - Proceedings of the 5th …, 2014 - dl.acm.org
Although genome-wide association studies have successfully identified thousands of risk
loci for complex traits, only a handful of the biologically causal variants, responsible for …

CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies

J Wang, D Huang, Y Zhou, H Yao, H Liu… - Nucleic acids …, 2020 - academic.oup.com
Genome-wide association studies (GWASs) have revolutionized the field of complex trait
genetics over the past decade, yet for most of the significant genotype-phenotype …

Comparison of strategies for scalable causal discovery of latent variable models from mixed data

VK Raghu, JD Ramsey, A Morris, DV Manatakis… - International journal of …, 2018 - Springer
Modern technologies allow large, complex biomedical datasets to be collected from patient
cohorts. These datasets are comprised of both continuous and categorical data (“Mixed …

Mendelian randomization for causal inference accounting for pleiotropy and sample structure using genome-wide summary statistics

X Hu, J Zhao, Z Lin, Y Wang, H Peng… - Proceedings of the …, 2022 - National Acad Sciences
Mendelian randomization (MR) is a valuable tool for inferring causal relationships among a
wide range of traits using summary statistics from genome-wide association studies …

Inferring causal relationships between risk factors and outcomes from genome-wide association study data

S Burgess, CN Foley, V Zuber - Annual review of genomics and …, 2018 - annualreviews.org
An observational correlation between a suspected risk factor and an outcome does not
necessarily imply that interventions on levels of the risk factor will have a causal impact on …

Automating Mendelian randomization through machine learning to construct a putative causal map of the human phenome

G Hemani, J Bowden, P Haycock, J Zheng, O Davis… - BioRxiv, 2017 - biorxiv.org
A major application for genome-wide association studies (GWAS) has been the emerging
field of causal inference using Mendelian randomization (MR), where the causal effect …