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Two-sample summary-data Mendelian randomization (MR) has become a popular research design to estimate the causal effect of risk exposures. With the sample size of GWAS continuing to increase, it is now possible to utilize genetic…

Applications · Statistics 2018-11-20 Qingyuan Zhao , Yang Chen , Jingshu Wang , Dylan S. Small

Omics biomarkers play a pivotal role in personalized medicine by providing molecular-level insights into the etiology of diseases, guiding precise diagnostics, and facilitating targeted therapeutic interventions. Recent advancements in…

Applications · Statistics 2024-02-21 Minhao Yao , Zhonghua Liu

Humans do not acquire perceptual abilities in the way we train machines. While machine learning algorithms typically operate on large collections of randomly-chosen, explicitly-labeled examples, human acquisition relies more heavily on…

Unsupervised representation learning with variational inference relies heavily on independence assumptions over latent variables. Causal representation learning (CRL), however, argues that factors of variation in a dataset are, in fact,…

Machine Learning · Computer Science 2023-07-13 Avinash Kori , Pedro Sanchez , Konstantinos Vilouras , Ben Glocker , Sotirios A. Tsaftaris

Causal representation learning (CRL) seeks to uncover meaningful latent variables and their corresponding causal structure from high-dimensional observational data. Although its significance, CRL identifiability remains a crucial property,…

Machine Learning · Computer Science 2026-05-20 Manal Benhamza , Marianne Clausel , Myriam Tami

We introduce a new approach to probabilistic unsupervised learning based on the recognition-parametrised model (RPM): a normalised semi-parametric hypothesis class for joint distributions over observed and latent variables. Under the key…

Machine Learning · Computer Science 2023-04-21 William I. Walker , Hugo Soulat , Changmin Yu , Maneesh Sahani

Causal representation learning (CRL) aims at recovering latent causal variables from high-dimensional observations to solve causal downstream tasks, such as predicting the effect of new interventions or more robust classification. A…

Machine Learning · Computer Science 2025-03-06 Dingling Yao , Dario Rancati , Riccardo Cadei , Marco Fumero , Francesco Locatello

Causal representation learning (CRL) enhances machine learning models' robustness and generalizability by learning structural causal models associated with data-generating processes. We focus on a family of CRL methods that uses contrastive…

Machine Learning · Statistics 2025-03-17 Xiusi Li , Sékou-Oumar Kaba , Siamak Ravanbakhsh

Our approach to Mendelian Randomization (MR) analysis is designed to increase reproducibility of causal effect "discoveries" by: (i) using a Bayesian approach to inference; (ii) replacing the point null hypothesis with a region of practical…

Methodology · Statistics 2022-08-11 Linyi Zou , Teresa Fazia , Hui Guo , Carlo Berzuini

A key element in transfer learning is representation learning; if representations can be developed that expose the relevant factors underlying the data, then new tasks and domains can be learned readily based on mappings of these salient…

Machine Learning · Computer Science 2014-12-18 Yujia Li , Kevin Swersky , Richard Zemel

Mendelian randomization (MR) is an epidemiological method that can be used to strengthen causal inference regarding the relationship between a modifiable environmental exposure and a medically relevant trait and to estimate the magnitude of…

Quantitative Methods · Quantitative Biology 2023-08-30 David M Evans , George Davey Smith , Gunn-Helen Moen

A key goal of unsupervised representation learning is "inverting" a data generating process to recover its latent properties. Existing work that provably achieves this goal relies on strong assumptions on relationships between the latent…

Machine Learning · Computer Science 2021-11-01 Kartik Ahuja , Jason Hartford , Yoshua Bengio

Mendelian randomization (MR) has become a popular approach to study causal effects by using genetic variants as instrumental variables. We propose a new MR method, GENIUS-MAWII, which simultaneously addresses the two salient phenomena that…

Methodology · Statistics 2024-02-27 Ting Ye , Zhonghua Liu , Baoluo Sun , Eric Tchetgen Tchetgen

Mendelian randomization is a widely-used method to estimate the unconfounded effect of an exposure on an outcome by using genetic variants as instrumental variables. Mendelian randomization analyses which use variants from a single genetic…

Methodology · Statistics 2024-02-20 Ashish Patel , Dipender Gill , Paul J. Newcombe , Stephen Burgess

Our Bayesian approach to Mendelian Randomisation uses multiple instruments to assess the putative causal effect of an exposure on an outcome. The approach is robust to violations of the (untestable) Exclusion Restriction condition, and…

Statistics Theory · Mathematics 2017-02-01 Carlo Berzuini , Hui Guo , Stephen Burgess , Luisa Bernardinelli

Estimating causal effect using machine learning (ML) algorithms can help to relax functional form assumptions if used within appropriate frameworks. However, most of these frameworks assume settings with cross-sectional data, whereas…

Econometrics · Economics 2024-09-04 Jonathan Fuhr , Dominik Papies

Standard Mendelian randomization analysis can produce biased results if the genetic variant defining the instrumental variable (IV) is confounded and/or has a horizontal pleiotropic effect on the outcome of interest not mediated by the…

Methodology · Statistics 2021-03-31 Zhonghua Liu , Ting Ye , Baoluo Sun , Mary Schooling , Eric Tchetgen Tchetgen

Causal representation learning seeks to recover latent factors that generate observational data through a mixing function. Needing assumptions on latent structures or relationships to achieve identifiability in general, prior works often…

Artificial Intelligence · Computer Science 2025-09-24 Kwonho Kim , Heejeong Nam , Inwoo Hwang , Sanghack Lee

We study aleatoric and epistemic uncertainty estimation in a learned regressive system dynamics model. Disentangling aleatoric uncertainty (the inherent randomness of the system) from epistemic uncertainty (the lack of data) is crucial for…

Machine Learning · Computer Science 2025-03-21 Zhiyu An , Zhibo Hou , Wan Du

Recent disentangled representation learning (DRL) methods heavily rely on factor specific strategies-either learning objectives for attributes or model architectures for objects-to embed inductive biases. Such divergent approaches result in…

Machine Learning · Computer Science 2025-11-12 Whie Jung , Dong Hoon Lee , Seunghoon Hong