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Estimating heritability remains a significant challenge in statistical genetics. Diverse approaches have emerged over the years that are broadly categorized as either random effects or fixed effects heritability methods. In this work, we…

Methodology · Statistics 2024-06-18 Yanke Song , Xihong Lin , Pragya Sur

We propose strategies to estimate and make inference on key features of heterogeneous effects in randomized experiments. These key features include best linear predictors of the effects using machine learning proxies, average effects sorted…

Machine Learning · Statistics 2023-10-25 Victor Chernozhukov , Mert Demirer , Esther Duflo , Iván Fernández-Val

This paper introduces an innovative Electronic Health Record (EHR) foundation model that integrates Polygenic Risk Scores (PRS) as a foundational data modality, moving beyond traditional EHR-only approaches to build more holistic health…

Diabetes is currently one of the most common, dangerous, and costly diseases in the world that is caused by an increase in blood sugar or a decrease in insulin in the body. Diabetes can have detrimental effects on people's health if…

Machine Learning · Computer Science 2021-03-16 Jafar Abdollahi , Babak Nouri-Moghaddam

In Mendelian randomization (MR) studies, genetic variants are used as instrumental variables (IVs) to investigate causal relationships between exposures and outcomes based on observational data. However, numerous genetic studies have shown…

Methodology · Statistics 2026-04-10 Julien St-Pierre , Archer Y. Yang , Mireille E. Schnitzer , Marc-André Legault

Linear mixed-effects models are widely used in analyzing clustered or repeated measures data. We propose a quasi-likelihood approach for estimation and inference of the unknown parameters in linear mixed-effects models with high-dimensional…

Methodology · Statistics 2021-03-10 Sai Li , Tony T. Cai , Hongzhe Li

Linear mixed models are widely used for clustered data, but their reliance on parametric forms limits flexibility in complex and high-dimensional settings. In contrast, gradient boosting methods achieve high predictive accuracy through…

Machine Learning · Statistics 2025-11-04 Mitchell L. Prevett , Francis K. C. Hui , Zhi Yang Tho , A. H. Welsh , Anton H. Westveld

Sparse regularized regression methods are now widely used in genome-wide association studies (GWAS) to address the multiple testing burden that limits discovery of potentially important predictors. Linear mixed models (LMMs) have become an…

Methodology · Statistics 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

Motivated by recent findings that within-subject (WS) visit-to-visit variabilities of longitudinal biomarkers can be strong risk factors for health outcomes, this paper introduces and examines a new joint model of a longitudinal biomarker…

Environmental hazards place certain individuals at disproportionately higher risks. As these hazards increasingly endanger human health, precise identification of the most vulnerable population subgroups is critical for public health.…

Machine Learning · Computer Science 2024-09-23 Jong Woo Nam , Eun Young Choi , Jennifer A. Ailshire , Yao-Yi Chiang

Representative risk estimation is fundamental to clinical decision-making. However, risks are often estimated from non-representative epidemiologic studies, which usually underrepresent minorities. "Model-based" methods use population…

Methodology · Statistics 2023-04-12 Lingxiao Wang , Yan Li , Barry I. Graubard , Hormuzd A. Katki

A crucial task for a randomized controlled trial (RCT) is to specify a statistical method that can yield an efficient estimator and powerful test for the treatment effect. A novel and effective strategy to obtain efficient and powerful…

Fitness functions based on test cases are very common in Genetic Programming (GP). This process can be assimilated to a learning task, with the inference of models from a limited number of samples. This paper is an investigation on two…

Machine Learning · Computer Science 2016-08-16 Christian Gagné , Marc Schoenauer , Marc Parizeau , Marco Tomassini

Biomedical studies have a common interest in assessing relationships between multiple related health outcomes and high-dimensional predictors. For example, in reproductive epidemiology, one may collect pregnancy outcomes such as length of…

Applications · Statistics 2011-11-24 Bin Zhu , David B. Dunson , Allison E. Ashley-Koch

Currently, women are referred for BRCA1/2 mutation-testing only if their family-history of breast/ovarian cancer implies that their risk of carrying a mutation exceeds 10\%. However, as mutation-testing costs fall, prominent voices have…

Methodology · Statistics 2017-11-16 Hormuzd A. Katki

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

Quantitative Methods · Quantitative Biology 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

Considerable interest has recently been focused on studying multiple phenotypes simultaneously in both epidemiological and genomic studies, either to capture the multidimensionality of complex disorders or to understand shared etiology of…

Methodology · Statistics 2015-11-26 Denis Agniel , Katherine P. Liao , Tianxi Cai

Complex diseases are multifactorial traits caused by both genetic and environmental factors. They represent the most part of human diseases and include those with largest prevalence and mortality (cancer, heart disease, obesity, etc.).…

Quantitative Methods · Quantitative Biology 2009-05-08 Roberto Amato , Michele Pinelli , Daniel D'Andrea , Gennaro Miele , Mario Nicodemi , Giancarlo Raiconi , Sergio Cocozza

Low-prior targets are common among many important clinical events, which introduces the challenge of having enough data to support learning of their predictive models. Many prior works have addressed this problem by first building a general…

Machine Learning · Computer Science 2021-06-29 Matthew Barren , Milos Hauskrecht

Cognizance of gene-environment interactions may help prevent or detain the onset of complex diseases like cardiovascular disease, cancer, type2 diabetes, autism or asthma by adjustments to lifestyle. In this regard, we extend the Bayesian…

Applications · Statistics 2017-07-25 Durba Bhattacharya , Sourabh Bhattacharya
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