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High-dimensional neuroimaging data presents challenges for assessing neurodegenerative diseases due to complex non-linear relationships. Variational Autoencoders (VAEs) can encode scans into lower-dimensional latent spaces capturing…

High resolution microarrays and second-generation sequencing platforms are powerful tools to investigate genome-wide alterations in DNA copy number, methylation and gene expression associated with a disease. An integrated genomic profiling…

Applications · Statistics 2013-04-22 Ronglai Shen , Sijian Wang , Qianxing Mo

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

Phylogenetic trait evolution models allow for the estimation of evolutionary correlations between a set of traits observed in a sample of related organisms. By directly modeling the evolution of the traits along an estimable phylogenetic…

Genome-wide association studies (GWA studies or GWAS) investigate the relationships between genetic variants such as single-nucleotide polymorphisms (SNPs) and individual traits. Recently, incorporating biological priors together with…

Machine Learning · Statistics 2017-09-13 Tao Yang , Paul Thompson , Sihai Zhao , Jieping Ye

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

Computational Engineering, Finance, and Science · Computer Science 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Alzheimer's disease (AD) is a degenerative brain disease impairing a person's ability to perform day to day activities. The clinical manifestations of Alzheimer's disease are characterized by heterogeneity in age, disease span, progression…

Machine Learning · Computer Science 2018-12-07 Vipul Satone , Rachneet Kaur , Faraz Faghri , Mike A Nalls , Andrew B Singleton , Roy H Campbell

In this paper, we study weakly-supervised laparoscopic image segmentation with sparse annotations. We introduce a novel Bayesian deep learning approach designed to enhance both the accuracy and interpretability of the model's segmentation,…

Computer Vision and Pattern Recognition · Computer Science 2024-10-14 Zhou Zheng , Yuichiro Hayashi , Masahiro Oda , Takayuki Kitasaka , Kensaku Mori

As a general and robust alternative to traditional mean regression models, quantile regression avoids the assumption of normally distributed errors, making it a versatile choice when modeling outcomes such as cognitive scores that typically…

Methodology · Statistics 2026-03-19 Rongke Lyu , Marina Vannucci , Suprateek Kundu

Identifying objective neuroimaging biomarkers to forecast Alzheimer's disease (AD) progression is crucial for timely intervention. However, this task remains challenging due to the complex dysfunctions in the spatio-temporal characteristics…

The multifactorial etiology of autism spectrum disorder (ASD) suggests that its study would benefit greatly from multimodal approaches that combine data from widely varying platforms, e.g., neuroimaging, genetics, and clinical…

Quantitative Methods · Quantitative Biology 2023-08-11 Nicha C. Dvornek , Catherine Sullivan , James S. Duncan , Abha R. Gupta

Brain imaging has allowed neuroscientists to analyze brain morphology in genetic and neurodevelopmental disorders, such as Down syndrome, pinpointing regions of interest to unravel the neuroanatomical underpinnings of cognitive impairment…

Computer Vision and Pattern Recognition · Computer Science 2024-09-23 Jordi Malé , Juan Fortea , Mateus Rozalem Aranha , Yann Heuzé , Neus Martínez-Abadías , Xavier Sevillano

Healthcare datasets present many challenges to both machine learning and statistics as their data are typically heterogeneous, censored, high-dimensional and have missing information. Feature selection is often used to identify the…

Machine Learning · Computer Science 2022-07-06 Annette Spooner , Gelareh Mohammadi , Perminder S. Sachdev , Henry Brodaty , Arcot Sowmya

Identifying clinically relevant biomarkers and developing predictive models are central challenges in biomedical research. Biomarkers are commonly used for disease screening, and some provide information not only on the presence or absence…

Methodology · Statistics 2025-08-21 Kazuharu Harada , Shuichi Kawano , Masataka Taguri

Studies of Alzheimer's disease (AD) often collect multiple longitudinal clinical outcomes, which are correlated and predictive of AD progression. It is of great scientific interest to investigate the association between the outcomes and…

Methodology · Statistics 2021-05-18 Cai Li , Luo Xiao , Sheng Luo

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…

Imaging genetics aims to uncover the hidden relationship between imaging quantitative traits (QTs) and genetic markers (e.g. single nucleotide polymorphism (SNP)), and brings valuable insights into the pathogenesis of complex diseases, such…

Methodology · Statistics 2025-04-30 Zhibin Pu , Shufei Ge

We consider the problems of hypothesis testing and model comparison under a flexible Bayesian linear regression model whose formulation is closely connected with the linear mixed effect model and the parametric models for SNP set analysis…

Methodology · Statistics 2015-02-24 Xiaoquan Wen

The ability to predict the future trajectory of a patient is a key step toward the development of therapeutics for complex diseases such as Alzheimer's disease (AD). However, most machine learning approaches developed for prediction of…

In many applications, data can be heterogeneous in the sense of spanning latent groups with different underlying distributions. When predictive models are applied to such data the heterogeneity can affect both predictive performance and…

Machine Learning · Statistics 2022-05-04 Thomas Lartigue , Sach Mukherjee