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In the analysis of complex traits, genetic effects are frequently modelled as either fixed or random effects. Such assumptions serve as a foundation of defining heritability and relatedness using genome-wide single nucleotide polymorphism…

Populations and Evolution · Quantitative Biology 2023-04-28 Hanbin Lee

There remains an open question about the usefulness and the interpretation of Machine learning (MLE) approaches for discrimination of spatial patterns of brain images between samples or activation states. In the last few decades, these…

Machine Learning · Statistics 2022-09-22 JM Gorriz , R. Martin-Clemente , C. G. Puntonet , A. Ortiz , J. Ramirez , J. Suckling

Motivation: The high dimensionality of genomic data calls for the development of specific classification methodologies, especially to prevent over-optimistic predictions. This challenge can be tackled by compression and variable selection,…

Methodology · Statistics 2021-04-10 G. Durif , L. Modolo , J. Michaelsson , J. E. Mold , S. Lambert-Lacroix , F. Picard

Large Language Models (LLMs) have demonstrated strong capabilities in various natural language processing tasks; however, their application to graph-related problems remains limited, primarily due to scalability constraints and the absence…

Machine Learning · Computer Science 2025-05-08 Hyun Lee , Chris Yi , Maminur Islam , B. D. S. Aritra

This article presents a novel method for causal discovery with generalized structural equation models suited for analyzing diverse types of outcomes, including discrete, continuous, and mixed data. Causal discovery often faces challenges…

Methodology · Statistics 2023-10-26 Minjie Wang , Xiaotong Shen , Wei Pan

Motivated by interpretability and reliability, we investigate whether large language models (LLMs) deploy universal geometric structures to encode discrete, graph-structured knowledge. To this end, we present two complementary experimental…

Machine Learning · Computer Science 2025-11-25 David D. Baek , Yuxiao Li , Max Tegmark

Understanding which genes control which traits in an organism remains one of the central challenges in biology. Despite significant advances in data collection technology, our ability to map genes to traits is still limited. This…

Genomics · Quantitative Biology 2025-08-22 Manuel Serna-Aguilera , Fiona L. Goggin , Aranyak Goswami , Alexander Bucksch , Suxing Liu , Khoa Luu

Unsupervised anomaly detection aims to identify anomalous samples from highly complex and unstructured data, which is pervasive in both fundamental research and industrial applications. However, most existing methods neglect the complex…

Machine Learning · Computer Science 2020-10-20 Haoyi Fan , Fengbin Zhang , Ruidong Wang , Liang Xi , Zuoyong Li

The association of a given human phenotype to a genetic variant remains a critical challenge for biology. We present a novel system called PhenoLinker capable of associating a score to a phenotype-gene relationship by using heterogeneous…

Integrating large language models (LLMs) with knowledge graphs derived from domain-specific data represents an important advancement towards more powerful and factual reasoning. As these models grow more capable, it is crucial to enable…

Artificial Intelligence · Computer Science 2024-04-19 Stefan Dernbach , Khushbu Agarwal , Alejandro Zuniga , Michael Henry , Sutanay Choudhury

Linear mixed models (LMMs) have emerged as the method of choice for confounded genome-wide association studies. However, the performance of LMMs in non-randomly ascertained case-control studies deteriorates with increasing sample size. We…

Genomics · Quantitative Biology 2016-02-23 Omer Weissbrod , Christoph Lippert , Dan Geiger , David Heckerman

Probabilistic Graphical Models (PGMs) are generative models of complex systems. They rely on conditional independence assumptions between variables to learn sparse representations which can be visualized in a form of a graph. Such models…

Machine Learning · Computer Science 2022-10-13 Harsh Shrivastava , Urszula Chajewska , Robin Abraham , Xinshi Chen

In genome-wide prediction, independence of marker allele substitution effects is typically assumed; however, since early stages of this technology it has been known that nature points to correlated effects. In statistics, graphical models…

Quantitative Methods · Quantitative Biology 2017-09-21 Carlos Alberto Martínez , Kshitij Khare , Syed Rahman , Mauricio A. Elzo

Genome data are crucial in modern medicine, offering significant potential for diagnosis and treatment. Thanks to technological advancements, many millions of healthy and diseased genomes have already been sequenced; however, obtaining the…

Genomics · Quantitative Biology 2024-06-18 Teddy Lazebnik , Liron Simon-Keren

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

Pre-trained large language models(LLMs) have attracted increasing attention in biomedical domains due to their success in natural language processing. However, the complex traits and heterogeneity of multi-sources genomics data pose…

Computation and Language · Computer Science 2025-11-25 Yanjun Lyu , Zihao Wu , Lu Zhang , Jing Zhang , Yiwei Li , Wei Ruan , Zhengliang Liu , Zeyu Zhang , Xiang Li , Rongjie Liu , Chao Huang , Wentao Li , Tianming Liu , Dajiang Zhu

This paper presents a general framework for obtaining interpretable multivariate discriminative models that allow efficient statistical inference for neuroimage analysis. The framework, termed generative discriminative machine (GDM),…

Applications · Statistics 2019-06-04 Erdem Varol , Aristeidis Sotiras , Ke Zeng , Christos Davatzikos

Recent advances in engineering technologies have enabled the collection of a large number of longitudinal features. This wealth of information presents unique opportunities for researchers to investigate the complex nature of diseases and…

Methodology · Statistics 2023-11-27 Zihang Lu , Noirrit Kiran Chandra

Graph machine learning has gained great attention in both academia and industry recently. Most of the graph machine learning models, such as Graph Neural Networks (GNNs), are trained over massive graph data. However, in many real-world…

Machine Learning · Computer Science 2022-10-19 Xingbo Fu , Binchi Zhang , Yushun Dong , Chen Chen , Jundong Li

In practical domains, high-dimensional data are usually associated with diverse semantic labels, whereas traditional feature selection methods are designed for single-label data. Moreover, existing multi-label methods encounter two main…

Machine Learning · Computer Science 2025-05-26 Yan Zhong , Xingyu Wu , Xinping Zhao , Li Zhang , Xinyuan Song , Lei Shi , Bingbing Jiang