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Much of the natural variation for a complex trait can be explained by variation in DNA sequence levels. As part of sequence variation, gene-gene interaction has been ubiquitously observed in nature, where its role in shaping the development…

Applications · Statistics 2012-10-01 Shaoyu Li , Yuehua Cui

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in…

Machine Learning · Statistics 2017-10-31 Dustin Tran , David M. Blei

It is increasingly of interest in statistical genetics to test for the presence of a mechanistic interaction between genetic (G) and environmental (E) risk factors by testing for the presence of an additive GxE interaction. In case-control…

Methodology · Statistics 2018-08-21 Eric J. Tchetgen Tchetgen , Xu Shi , Tamar Sofer , Benedict H. W. Wong

Mendelian randomization (MR) is a widely used tool for causal inference in the presence of unmeasured confounders, which uses single nucleotide polymorphisms (SNPs) as instrumental variables to estimate causal effects. However, SNPs often…

Methodology · Statistics 2025-04-29 Ruoyu Wang , Haoyu Zhang , Xihong Lin

Developments in genome-wide association studies and the increasing availability of summary genetic association data have made the application of two-sample Mendelian Randomization (MR) with summary data increasingly popular. Conventional…

Methodology · Statistics 2023-02-22 Xinwei Ma , Jingshen Wang , Chong Wu

We study the problem of estimating causal effects under hidden confounding in the following unpaired data setting: we observe some covariates $X$ and an outcome $Y$ under different experimental conditions (environments) but do not observe…

Machine Learning · Statistics 2026-01-22 Felix Schur , Niklas Pfister , Peng Ding , Sach Mukherjee , Jonas Peters

In ecology we may find scenarios where the same phenomenon (species occurrence, species abundance, etc.) is observed using two different types of samplers. For instance, species data can be collected from scientific sampling with a…

A biological pathway represents a set of genes that serves a particular cellular or a physiological function. The genes within the same pathway are expected to function together and hence may interact with each other. It is also known that…

Methodology · Statistics 2012-06-14 Zaili Fang , Inyoung Kim , Jeesun Jung

Genetic interactions play an important role in the progression of complex diseases, providing explanation of variations in disease phenotype missed by main genetic effects. Comparatively, there are fewer investigations on prognostic…

Methodology · Statistics 2021-09-23 Xing Qin , Shuangge Ma , Mengyun Wu

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

In settings where Machine Learning (ML) algorithms automate or inform consequential decisions about people, individual decision subjects are often incentivized to strategically modify their observable attributes to receive more favorable…

Machine Learning · Computer Science 2022-06-10 Keegan Harris , Daniel Ngo , Logan Stapleton , Hoda Heidari , Zhiwei Steven Wu

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

Methodology · Statistics 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

Evaluating the causal health effects of multivariate, continuous exposures, such as air pollution mixtures, is a critical public health challenge. A primary obstacle is the frequent violation of the positivity assumption, which renders the…

Methodology · Statistics 2026-05-05 Zhuochao Huang , Kejin Dong , Tuo Lin , Joseph Antonelli

Genome-wide association studies, in which as many as a million single nucleotide polymorphisms (SNP) are measured on several thousand samples, are quickly becoming a common type of study for identifying genetic factors associated with many…

Methodology · Statistics 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

In this work we present a statistical approach to distinguish and interpret the complex relationship between several predictors and a response variable at the small area level, in the presence of i) high correlation between the predictors…

Applications · Statistics 2016-02-24 Silvia Liverani , Aurore Lavigne , Marta Blangiardo

Estimating causal effects from high-dimensional, structured exposures is a fundamental challenge in modern applications ranging from neuroscience and finance to environmental science. While the literature has addressed high-dimensional…

Methodology · Statistics 2026-04-29 Samhita Pal , Dhrubajyoti Ghosh

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

Genetic variants identified to date by genome-wide association studies only explain a small fraction of total heritability. Gene-by-gene interaction is one important potential source of unexplained heritability. In the first part of this…

Methodology · Statistics 2016-05-10 Chen Lu

High-throughput pheno-, geno-, and envirotyping allows characterization of plant genotypes and the trials they are evaluated in, producing different types of data. These different data modalities can be integrated into statistical or…

The method of multivariable Mendelian randomization uses genetic variants to instrument multiple exposures, to estimate the effect that a given exposure has on an outcome conditional on all other exposures included in a linear model.…

Methodology · Statistics 2024-08-20 Ashish Patel , James Lane , Stephen Burgess
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