English
Related papers

Related papers: A General Statistic Framework for Genome-based Dis…

200 papers

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

The intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing…

Quantitative Methods · Quantitative Biology 2024-01-19 Jiayu Chang , Shiyu Wang , Chen Ling , Zhaohui Qin , Liang Zhao

While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the…

Machine Learning · Computer Science 2023-02-15 Wenting Ye , Xiang Liu , Tianwei Yue , Wenping Wang

Predicting cognition from neuroimaging data in healthy individuals offers insights into the neural mechanisms underlying cognitive abilities, with potential applications in precision medicine and early detection of neurological and…

Machine Learning · Computer Science 2025-07-29 Jagruti Patel , Mikkel Schöttner , Thomas A. W. Bolton , Patric Hagmann

Phenotype-driven gene prioritization is a critical process in the diagnosis of rare genetic disorders for identifying and ranking potential disease-causing genes based on observed physical traits or phenotypes. While traditional approaches…

Quantitative Methods · Quantitative Biology 2024-04-04 Junyoung Kim , Jingye Yang , Kai Wang , Chunhua Weng , Cong Liu

The classical functional linear regression model (FLM) and its extensions, which are based on the assumption that all individuals are mutually independent, have been well studied and are used by many researchers. This independence…

Computation · Statistics 2018-11-02 Tingting Huang , Gilbert Saporta , Huiwen Wang , Shanshan Wang

Non-invasive measurements of the human brain using magnetic resonance imaging (MRI) have significantly improved our understanding the brain's network organization by enabling measurement of anatomical connections between brain regions…

Applications · Statistics 2025-12-10 Keshav Motwani , Ali Shojaie , Ariel Rokem , Eardi Lila

Data-driven approaches for depression diagnosis have emerged as a significant research focus in neuromedicine, driven by the development of relevant datasets. Recently, graph neural network (GNN)-based models have gained widespread adoption…

Machine Learning · Computer Science 2025-05-01 Chengkai Yang , Xingping Dong , Xiaofen Zong

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

Neural time-series analysis has traditionally focused on modeling data in the time domain, often with some approaches incorporating equivalent Fourier domain representations as auxiliary spectral features. In this work, we shift the main…

Machine Learning · Computer Science 2024-10-08 Minjung Kim , Yusuke Hioka , Michael Witbrock

Sleep traits are shaped by genetic and environmental factors and may influence many health conditions. The All of Us Research Program, which includes EHR, physical measurements, genomic data, and wearable data across ancestry groups,…

Genomics · Quantitative Biology 2026-05-25 Jiheum Park , Stephanie Y. Shue , Rocio Barragan , Jeong Yun Yang , Tian Gu , Chin Hur , Marie-Pierre St-Onge

Symbolic regression with genetic programming (GPSR) may suffer from overfitting and structural bloat, especially when noise is present. In this paper we evaluate description length (DL) and fractional Bayes factor (FBF) criteria as…

Neural and Evolutionary Computing · Computer Science 2026-05-22 Gabriel Kronberger , Fabricio Olivetti de Franca , Deaglan J. Bartlett , Harry Desmond , Pedro G. Ferreira

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

To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…

Machine Learning · Computer Science 2025-07-01 Alan N. Amin , Andres Potapczynski , Andrew Gordon Wilson

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Genomics · Quantitative Biology 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWAS). However, choosing the relevant annotations for interpreting an association study of a given trait remains challenging. We describe a…

Genomics · Quantitative Biology 2014-04-24 Joseph K. Pickrell

The Blood-Oxygen-Level-Dependent (BOLD) signal of resting-state fMRI (rs-fMRI) records the temporal dynamics of intrinsic functional networks in the brain. However, existing deep learning methods applied to rs-fMRI either neglect the…

Machine Learning · Computer Science 2021-06-30 Soham Gadgil , Qingyu Zhao , Adolf Pfefferbaum , Edith V. Sullivan , Ehsan Adeli , Kilian M. Pohl

Generalized linear mixed-effects models (GLMMs) are widely used to analyze grouped and hierarchical data. In a GLMM, each response is assumed to follow an exponential-family distribution where the natural parameter is given by a linear…

Machine Learning · Statistics 2026-04-14 Yuli Slavutsky , Sebastian Salazar , David M. Blei

The general linear model (GLM) is a well established tool for analyzing functional magnetic resonance imaging (fMRI) data. Most fMRI analyses via GLM proceed in a massively univariate fashion where the same design matrix is used for…

Large language models (LLMs) show promise for health applications when combined with behavioral sensing data. Traditional approaches convert sensor data into text prompts, but this process is prone to errors, computationally expensive, and…