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In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

Methodology · Statistics 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

Recent publications have described and applied a novel metric that quantifies the genetic distance of an individual with respect to two population samples, and have suggested that the metric makes it possible to infer the presence of an…

Genomics · Quantitative Biology 2015-09-24 Rosemary Braun , William Rowe , Carl Schaefer , Jinghui Zhang , Kenneth Buetow

Generative models have achieved remarkable success across a range of applications, yet their evaluation still lacks principled uncertainty quantification. In this paper, we develop a method for comparing how close different generative…

Machine Learning · Statistics 2025-10-24 Zijun Gao , Yan Sun , Han Su

An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

Genomics · Quantitative Biology 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao

Genome-wide association studies (GWAS) have led to the discovery of numerous single nucleotide polymorphisms (SNPs) associated with various phenotypes and complex diseases. However, the identified genetic variants do not fully explain the…

Methodology · Statistics 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

Distance metric learning has attracted much attention in recent years, where the goal is to learn a distance metric based on user feedback. Conventional approaches to metric learning mainly focus on learning the Mahalanobis distance metric…

Machine Learning · Computer Science 2020-11-10 Zhongfang Zhuang , Xiangnan Kong , Elke Rundensteiner , Jihane Zouaoui , Aditya Arora

Most existing metric learning methods focus on learning a similarity or distance measure relying on similar and dissimilar relations between sample pairs. However, pairs of samples cannot be simply identified as similar or dissimilar in…

Machine Learning · Computer Science 2021-03-30 Lifeng Gu

In this paper we present two related, kernel-based Distance Metric Learning (DML) methods. Their respective models non-linearly map data from their original space to an output space, and subsequent distance measurements are performed in the…

Machine Learning · Computer Science 2014-04-30 Cong Li , Michael Georgiopoulos , Georgios C. Anagnostopoulos

Probability metrics have become an indispensable part of modern statistics and machine learning, and they play a quintessential role in various applications, including statistical hypothesis testing and generative modeling. However, in a…

Machine Learning · Statistics 2020-03-02 Soheil Kolouri , Kimia Nadjahi , Umut Simsekli , Shahin Shahrampour

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Motivated by applications in genetic fields, we propose to estimate the heritability in high dimensional sparse linear mixed models. The heritability determines how the variance is shared between the different random components of a linear…

Statistics Theory · Mathematics 2015-05-07 Anna Bonnet , Elisabeth Gassiat , Céline Lévy-Leduc

The aim of this paper is to propose a novel estimation method of using genetic-predicted observations to estimate trans-ancestry genetic correlations, which describes how genetic architecture of complex traits varies among populations, in…

Methodology · Statistics 2022-03-24 Bingxin Zhao , Xiaochen Yang , Hongtu Zhu

Curve matching is a prediction technique that relies on predictive mean matching, which matches donors that are most similar to a target based on the predictive distance. Even though this approach leads to high prediction accuracy, the…

Methodology · Statistics 2022-07-12 Anaïs Fopma , Mingyang Cai , Stef van Buuren , Gerko Vink

Metric learning for classification has been intensively studied over the last decade. The idea is to learn a metric space induced from a normed vector space on which data from different classes are well separated. Different measures of the…

Machine Learning · Computer Science 2019-10-22 Yinan Yu , Tomas McKelvey

Thousands of risk variants underlying complex phenotypes (quantitative traits and diseases) have been identified in genome-wide association studies (GWAS). However, there are still two major challenges towards deepening our understanding of…

Methodology · Statistics 2017-10-20 Jingsi Ming , Mingwei Dai , Mingxuan Cai , Xiang Wan , Jin Liu , Can Yang

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

The objective of a genome-wide association study (GWAS) is to associate subsequences of individuals' genomes to the observable characteristics called phenotypes (e.g., high blood pressure). Motivated by the GWAS problem, in this paper we…

Information Theory · Computer Science 2020-10-15 Behrooz Tahmasebi , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

High-dimensional linear and nonlinear models have been extensively used to identify associations between response and explanatory variables. The variable selection problem is commonly of interest in the presence of massive and complex data.…

Methodology · Statistics 2017-08-10 Vitara Pungpapong , Min Zhang , Dabao Zhang

The crucial importance of metrics in machine learning algorithms has led to an increasing interest in optimizing distance and similarity functions, an area of research known as metric learning. When data consist of feature vectors, a large…

Machine Learning · Computer Science 2019-01-25 Aurélien Bellet
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