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The perturbation of a transcription factor should affect the expression levels of its direct targets. However, not all genes showing changes in expression are direct targets. To increase the chance of detecting direct targets, we propose a…

Methodology · Statistics 2018-07-19 Leying Guan , Xi Chen , Wing Hung Wong

We propose a doubly robust inference method for causal effects of continuous treatment variables, under unconfoundedness and with nonparametric or high-dimensional nuisance functions. Our double debiased machine learning (DML) estimators…

Econometrics · Economics 2023-10-02 Kyle Colangelo , Ying-Ying Lee

We consider the inverse problem of estimating the spatially varying pulse wave velocity in blood vessels in the brain from dynamic MRI data, as it appears in the recently proposed imaging technique of Magnetic Resonance Advection Imaging…

Numerical Analysis · Mathematics 2020-01-13 Simon Hubmer , Andreas Neubauer , Ronny Ramlau , Henning U. Voss

Linear instrumental variable regressions are widely used to estimate causal effects. Many instruments arise from the use of ``technical'' instruments and more recently from the empirical strategy of ``judge design''. This paper surveys and…

Econometrics · Economics 2024-01-26 Anna Mikusheva , Liyang Sun

Magnetic resonance imaging (MRI) exam protocols consist of multiple contrast-weighted images of the same anatomy to emphasize different tissue properties. Due to the long acquisition times required to collect fully sampled k-space…

Image and Video Processing · Electrical Eng. & Systems 2023-06-08 Brett Levac , Ajil Jalal , Kannan Ramchandran , Jonathan I. Tamir

In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

Methodology · Statistics 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

The Mann-Whitney-Wilcoxon rank sum test (MWWRST) is a widely used method for comparing two treatment groups in randomized control trials, particularly when dealing with highly skewed data. However, when applied to observational study data,…

RNA interference (RNAi) is an endogenous cellular process in which small double-stranded RNAs lead to the destruction of mRNAs with complementary nucleoside sequence. With the production of RNAi libraries, large-scale RNAi screening in…

This study investigates the application of surface-enhanced Raman spectroscopy (SERS) as a diagnostic tool for myasthenia gravis, a severe neuromuscular disorder characterized by muscle weakness and fatigue. Blood serum samples were…

Medical Physics · Physics 2025-01-22 I. Riabenko , S. Prokhorenko , E. Klimova , K. Beloshenko

When genetic variants in a gene cluster are associated with a disease outcome, the causal pathway from the variants to the outcome can be difficult to disentangle. For example, the chemokine receptor gene cluster contains genetic variants…

Methodology · Statistics 2021-10-05 Fatima Batool , Ashish Patel , Dipender Gill , Stephen Burgess

Major Depressive Disorder (MDD) is one of the most common causes of disability worldwide. Unfortunately, about one-third of patients do not benefit sufficiently from available treatments and not many new drugs have been developed in this…

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

Genomics · Quantitative Biology 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

The recent availability of huge, many-dimensional data sets, like those arising from genome-wide association studies (GWAS), provides many opportunities for strengthening causal inference. One popular approach is to utilize these…

Machine Learning · Statistics 2020-12-21 Ioan Gabriel Bucur , Tom Claassen , Tom Heskes

Researchers are increasingly turning to machine learning (ML) algorithms to investigate causal heterogeneity in randomized experiments. Despite their promise, ML algorithms may fail to accurately ascertain heterogeneous treatment effects…

Methodology · Statistics 2024-04-23 Kosuke Imai , Michael Lingzhi Li

Motivation: Mendelian randomization (MR) infers causal relationships between exposures and outcomes using genetic variants as instrumental variables. Typically, MR considers only a pair of exposure and outcome at a time, limiting its…

Applications · Statistics 2025-10-14 Bitan Sarkar , Yang Ni

Quantification and minimization of uncertainty is an important task in the design of electromagnetic devices, which comes with high computational effort. We propose a hybrid approach combining the reliability and accuracy of a Monte Carlo…

Machine Learning · Computer Science 2022-04-12 Mona Fuhrländer , Sebastian Schöps

We introduce the Multiplicative Quasi-Instrumental Variable (MQIV) model, a framework for causal inference with unmeasured confounding that leverages an instrument that may be imperfectly exogenous. We allow the candidate quasi-instrument…

Methodology · Statistics 2026-05-13 Jiewen Liu , Chan Park , David Richardson , Eric J. Tchetgen Tchetgen

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Deep neural networks are increasingly employed in high-stakes medical applications, despite their tendency for shortcut learning in the presence of spurious correlations, which can have potentially fatal consequences in practice. Whereas a…

Artificial Intelligence · Computer Science 2025-07-30 Frederik Pahde , Thomas Wiegand , Sebastian Lapuschkin , Wojciech Samek

Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a lower cost making such testing accessible to a broader population. Thus, more patients carrying pathogenic germline mutations in various…

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