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Polygenic risk score (PRS) analysis is a powerful method been used to estimate an individual's genetic risk towards targeted traits. PRS analysis could be used to obtain evidence of a genetic effect beyond Genome-Wide Association Studies…

Genome-wide association studies (GWAS) have been widely used to examine the association between single nucleotide polymorphisms (SNPs) and complex traits, where both the sample size n and the number of SNPs p can be very large. Recently,…

Methodology · Statistics 2019-03-05 Bingxin Zhao , Hongtu Zhu

The polygenic risk scores (PRS) have emerged as an important methodology for quantifying genetic predisposition to complex traits and clinical disease. Significant progress has been made in applying PRS to conditions such as obesity,…

Polygenic risk scores (PRS) developed from genome-wide association studies (GWAS) can be used for risk stratification by quantifying the genetic contribution to disease, and many clinical applications have been proposed. Bayesian methods…

Methodology · Statistics 2026-03-11 Yuzheng Dun , Nilanjan Chatterjee , Jin Jin , Akihiko Nishimura

We study principal components regression (PCR) in an asymptotic high-dimensional regression setting, where the number of data points is proportional to the dimension. We derive exact limiting formulas for the estimation and prediction…

Statistics Theory · Mathematics 2025-09-18 Alden Green , Elad Romanov

We provide a unified analysis of the predictive risk of ridge regression and regularized discriminant analysis in a dense random effects model. We work in a high-dimensional asymptotic regime where $p, n \to \infty$ and $p/n \to \gamma \in…

Statistics Theory · Mathematics 2015-11-05 Edgar Dobriban , Stefan Wager

High-dimensional linear regression has been thoroughly studied in the context of independent and identically distributed data. We propose to investigate high-dimensional regression models for independent but non-identically distributed…

Statistics Theory · Mathematics 2026-05-20 Jérémie Bigot , Issa-Mbenard Dabo , Camille Male

Marginal association summary statistics have attracted great attention in statistical genetics, mainly because the primary results of most genome-wide association studies (GWAS) are produced by marginal screening. In this paper, we study…

Methodology · Statistics 2019-11-25 Bingxin Zhao , Hongtu Zhu

Polygenic risk scores (PRS) estimate the genetic risk of an individual for a complex disease based on many genetic variants across the whole genome. In this study, we compared a series of computational models for estimation of breast cancer…

Quantitative Methods · Quantitative Biology 2023-07-26 Adrien Badré , Li Zhang , Wellington Muchero , Justin C. Reynolds , Chongle Pan

Polygenic risk scores (PRS) have recently received much attention for genetics risk prediction. While successful for the Caucasian population, the PRS based on the minority population suffer from small sample sizes, high dimensionality and…

We investigate the theoretical performances of the Partial Least Square (PLS) algorithm in a high dimensional context. We provide upper bounds on the risk in prediction for the statistical linear model when considering the PLS estimator.…

Statistics Theory · Mathematics 2024-10-15 Luca Castelli , Irène Gannaz , Clément Marteau

Objective: SNP heritability estimates vary substantially across estimation strategies, yet the downstream consequences for polygenic risk score (PRS) construction remain poorly characterised. We systematically benchmarked heritability…

Genomics · Quantitative Biology 2026-04-06 Muhammad Muneeb , David B. Ascher

Continual learning is motivated by the need to adapt to real-world dynamics in tasks and data distribution while mitigating catastrophic forgetting. Despite significant advances in continual learning techniques, the theoretical…

Methodology · Statistics 2025-08-22 Yihan Zhao , Wenqing Su , Ying Yang

Precision Medicine (PM) transforms the traditional "one-drug-fits-all" paradigm by customising treatments based on individual characteristics, and is an emerging topic for HCI research on digital health. A key element of PM, the Polygenic…

Human-Computer Interaction · Computer Science 2025-02-03 Yuhao Sun , Albert Tenesa , John Vines

Propensity score (PS) methods are widely used in observational studies to reduce confounding and estimate causal treatment effects. However, the validity of PS-based causal estimators depends heavily on correct model specification, and…

In this paper we study the asymptotic normality in high-dimensional linear regression. We focus on the case where the covariance matrix of the regression variables has a KMS structure, in asymptotic settings where the number of predictors,…

Statistics Theory · Mathematics 2022-05-17 Saulius Jokubaitis , Remigijus Leipus

We consider statistical inference in high-dimensional regression problems under affine constraints on the parameter space. The theoretical study of this is motivated by the study of genetic determinants of diseases, such as diabetes, using…

Risk modeling with EHR data is challenging due to a lack of direct observations on the disease outcome, and the high dimensionality of the candidate predictors. In this paper, we develop a surrogate assisted semi-supervised-learning (SAS)…

Statistics Theory · Mathematics 2021-05-05 Jue Hou , Zijian Guo , Tianxi Cai

Doubly robust (DR) estimation is a crucial technique in causal inference and missing data problems. We propose a novel Propensity score Augmentved Doubly robust (PAD) estimator to enhance the commonly used DR estimator for average treatment…

Methodology · Statistics 2023-04-18 Liangbo Lyu , Molei Liu

Polygenic risk scores (PRSs) can significantly enhance breast cancer risk prediction when combined with clinical risk factor data. While many studies have explored the value-add of PRSs, little is known about the potential impact of…

Genomics · Quantitative Biology 2024-07-31 Monica Isgut , Andrew Hornback , Yunan Luo , Asma Khimani , Neha Jain , May D. Wang
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