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Discovery gene-disease links is important in biology and medicine areas, enabling disease identification and drug repurposing. Machine learning approaches accelerate this process by leveraging biological knowledge represented in ontologies…

Machine Learning · Computer Science 2025-04-14 Catarina Canastra , Cátia Pesquita

Given a random sample of observations, mixtures of normal densities are often used to estimate the unknown continuous distribution from which the data come. Here we propose the use of this semiparametric framework for testing symmetry about…

Methodology · Statistics 2012-04-23 Silvia Bacci , Francesco Bartolucci

Distance-based regression model, as a nonparametric multivariate method, has been widely used to detect the association between variations in a distance or dissimilarity matrix for outcomes and predictor variables of interest in genetic…

Statistics Theory · Mathematics 2022-03-14 Yuke Shi , Wei Zhang , Aiyi Liu , Qizhai Li

In this article, we propose the outcome-adjusted balance measure to perform model selection for the generalized propensity score (GPS), which serves as an essential component in estimation of the pairwise average treatment effects (ATEs) in…

Methodology · Statistics 2021-07-28 Honghe Zhao , Shu Yang

We study the problem of testing for the presence of random effects in mixed models with high-dimensional fixed effects. To this end, we propose a rank-based graph-theoretic approach to test whether a collection of random effects is zero.…

Methodology · Statistics 2025-06-10 Lynna Chu , Yichuan Bai

Understanding the spatiotemporal dynamics of disease progression in relation to transcriptomic profiles provides key insights into complex conditions such as Alzheimer disease. To enable such investigations, STARmap PLUS technology offers…

Applications · Statistics 2026-04-28 Zitian Wu , Susmita Datta , Arkaprava Roy

Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

Genomics · Quantitative Biology 2007-05-23 Zhong Li , Aris Floratos , David Wang , Andrea Califano

Principal component analysis (PCA) aims at estimating the direction of maximal variability of a high-dimensional dataset. A natural question is: does this task become easier, and estimation more accurate, when we exploit additional…

Information Theory · Computer Science 2014-06-19 Andrea Montanari , Emile Richard

Genetic interaction measures how different genes collectively contribute to a phenotype, and can reveal functional compensation and buffering between pathways under genetic perturbations. Recently, genome-wide screening for genetic…

Molecular Networks · Quantitative Biology 2015-03-17 Gang Fang , Wen Wang , Vanja Paunic , Benjamin Oately , Majda Haznadar , Michael Steinbach , Brian Van Ness , Chad L. Myers , Vipin Kumar

This paper introduces a novel goodness-of-fit test technique for parametric conditional distributions. The proposed tests are based on a residual marked empirical process, for which we develop a conditional Principal Component Analysis. The…

Econometrics · Economics 2025-06-18 Cui Rui , Li Yuhao

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

The problem of infering the top component of a noisy sample covariance matrix with prior information about the distribution of its entries is considered, in the framework of the spiked covariance model. Using the replica method of…

Statistical Mechanics · Physics 2016-12-20 Rémi Monasson

While a large body of research has formally identified apolipoprotein E (APOE) as a major genetic risk marker for Alzheimer disease, accumulating evidence supports the notion that other risk markers may exist. The traditional…

Quantitative Methods · Quantitative Biology 2020-03-13 Ning An , Liuqi Jin , Huitong Ding , Jiaoyun Yang , Jing Yuan

Randomised field experiments, such as A/B testing, have long been the gold standard for evaluating the value that new software brings to customers. However, running randomised field experiments is not always desired, possible or even…

Software Engineering · Computer Science 2022-07-04 Yuchu Liu , David Issa Mattos , Jan Bosch , Helena Holmström Olsson , Jonn Lantz

Statistical tasks such as density estimation and approximate Bayesian inference often involve densities with unknown normalising constants. Score-based methods, including score matching, are popular techniques as they are free of…

Machine Learning · Statistics 2021-12-22 Li K. Wenliang , Heishiro Kanagawa

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…

Genomics · Quantitative Biology 2023-04-07 Ali Amelia , Lourdes Pena-Castillo , Hamid Usefi

Motivation: Exome or targeted sequencing data exerts analytical challenge to test single nucleotide polymorphisms (SNPs) with extremely small minor allele frequency (MAF). Various rare variant tests were proposed to increase power by…

Genomics · Quantitative Biology 2016-06-30 Maggie Haitian Wang , Haoyi Weng , Rui Sun , Benny Chung-Ying Zee

INTRODUCTION: Alzheimer's disease (AD) is genetically complex, complicating robust classification from genomic data. METHODS: We developed a transformer-based ensemble model (TrUE-Net) using Monte Carlo Dropout for uncertainty estimation in…

Genomics · Quantitative Biology 2025-06-03 Taeho Jo , Eun Hye Lee , Alzheimer's Disease Sequencing Project

When averages of different experimental determinations of the same quantity are computed, each with statistical and systematic error components, then frequently the statistical and systematic components of the combined error are quoted…

Data Analysis, Statistics and Probability · Physics 2015-10-28 Jens Erler

The Dirichlet-multinomial (DM) distribution plays a fundamental role in modern statistical methodology development and application. Recently, the DM distribution and its variants have been used extensively to model multivariate count data…

Methodology · Statistics 2023-02-27 Matthew D. Koslovsky
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