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While studies show that autism is highly heritable, the nature of the genetic basis of this disorder remains illusive. Based on the idea that highly correlated genes are functionally interrelated and more likely to affect risk, we develop a…

Methodology · Statistics 2015-11-18 Li Liu , Jing Lei , Kathryn Roeder

Protein contacts contain important information for protein structure and functional study, but contact prediction from sequence remains very challenging. Both evolutionary coupling (EC) analysis and supervised machine learning methods are…

Quantitative Methods · Quantitative Biology 2015-04-09 Jianzhu Ma , Sheng Wang , Zhiyong Wang , Jinbo Xu

We present a method for finding hierarchy-aware embeddings of knowledge graphs (KGs) using graph neural networks (GNNs) enriched with a semantic loss derived from underlying ontologies. This method yields embeddings that better reflect…

Machine Learning · Computer Science 2026-05-21 Filip Kronström , Alexander H. Gower , Daniel Brunnsåker , Ievgeniia A. Tiukova , Ross D. King

In genome-wide association studies (GWAS), hundreds of thousands of genetic markers (SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger in magnitude than the true effects of these markers, the…

Methodology · Statistics 2010-10-25 Michael E. Goddard , Naomi R. Wray , Klara Verbyla , Peter M. Visscher

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

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

Genomics · Quantitative Biology 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

The rapid development of high-throughput technologies has enabled the generation of data from biological or disease processes that span multiple layers, like genomic, proteomic or metabolomic data, and further pertain to multiple sources,…

Machine Learning · Statistics 2022-01-25 Subhabrata Majumdar , George Michailidis

Unraveling the complexities of Gene Regulatory Networks (GRNs) is crucial for understanding cellular processes and disease mechanisms. Traditional computational methods often struggle with the dynamic nature of these networks. This study…

Machine Learning · Computer Science 2025-03-04 Hakan T. Otal , Abdulhamit Subasi , Furkan Kurt , M. Abdullah Canbaz , Yasin Uzun

Motivation: Networks underlie the generation and interpretation of many biological datasets: gene networks shed light on the regulatory structure of the genome, and cell networks can capture structure of the tumor micro-environment.…

Machine Learning · Statistics 2026-03-18 Bailey Andrew , Erica L. Harris , James A. Poulter , David R. Westhead , Luisa Cutillo

The identification of cancer genes is a critical yet challenging problem in cancer genomics research. Existing computational methods, including deep graph neural networks, fail to exploit the multilayered gene-gene interactions or provide…

Machine Learning · Computer Science 2023-05-04 Michail Chatzianastasis , Michalis Vazirgiannis , Zijun Zhang

Conditional correlation networks, within Gaussian Graphical Models (GGM), are widely used to describe the direct interactions between the components of a random vector. In the case of an unlabelled Heterogeneous population, Expectation…

Statistics Theory · Mathematics 2022-03-09 Thomas Lartigue , Stanley Durrleman , Stéphanie Allassonnière

Although genome-wide association studies (GWAS) have proven powerful for comprehending the genetic architecture of complex traits, they are challenged by a high dimension of single-nucleotide polymorphisms (SNPs) as predictors, the presence…

Applications · Statistics 2015-09-15 Jiahan Li , Zhong Wang , Runze Li , Rongling Wu

Missing data imputation (MDI) is crucial when dealing with tabular datasets across various domains. Autoencoders can be trained to reconstruct missing values, and graph autoencoders (GAE) can additionally consider similar patterns in the…

Machine Learning · Computer Science 2022-10-20 Lev Telyatnikov , Simone Scardapane

Evolutionary algorithms (EAs) simulate natural selection but have two main limitations: (1) they rarely update individuals based on global correlations, limiting comprehensive learning; (2) they struggle with balancing exploration and…

Neural and Evolutionary Computing · Computer Science 2025-11-25 Kaichen Ouyang , Zong Ke , Shengwei Fu , Lingjie Liu , Puning Zhao , Dayu Hu

Biomedical research increasingly relies on integrating diverse data modalities, including gene expression profiles, medical images, and clinical metadata. While medical images and clinical metadata are routinely collected in clinical…

Artificial Intelligence · Computer Science 2026-01-23 Francesca Pia Panaccione , Carlo Sgaravatti , Pietro Pinoli

The search for symbolic regression models with genetic programming (GP) has a tendency of revisiting expressions in their original or equivalent forms. Repeatedly evaluating equivalent expressions is inefficient, as it does not immediately…

Machine Learning · Computer Science 2025-04-09 Fabricio Olivetti de Franca , Gabriel Kronberger

We consider the problem of learning the underlying causal structure among a set of variables, which are assumed to follow a Bayesian network or, more specifically, a linear recursive structural equation model (SEM) with the associated…

Statistics Theory · Mathematics 2025-08-05 Anamitra Chaudhuri , Anirban Bhattacharya , Yang Ni

Identifying differences in networks has become a canonical problem in many biological applications. Here, we focus on testing whether two Gaussian graphical models are the same. Existing methods try to accomplish this goal by either…

Methodology · Statistics 2019-10-01 Sen Zhao , Stephen Ottinger , Suzanne Peck , Christine Mac Donald , Ali Shojaie

The method of generalized estimating equations (GEE) is popular in the biostatistics literature for analyzing longitudinal binary and count data. It assumes a generalized linear model (GLM) for the outcome variable, and a working…

Methodology · Statistics 2016-06-03 Aristidis K. Nikoloulopoulos

Generalized estimating equations (GEE) are widely used to analyze longitudinal data; however, they are not appropriate for heteroscedastic data, because they only estimate regressor effects on the mean response{\textemdash}and therefore do…

Methodology · Statistics 2020-12-29 Amadou Barry , Karim Oualkacha , Arthur Charpentier