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Genome-wide association study (GWAS) tests single nucleotide polymorphism (SNP) markers across the genome to localize the underlying causal variant of a trait. Because causal variants are seldom observed directly, a surrogate model based on…

Populations and Evolution · Quantitative Biology 2023-03-03 Hanbin Lee , Moo Hyuk Lee

Selecting interpretable feature sets in underdetermined ($n \ll p$) and highly correlated regimes constitutes a fundamental challenge in data science, particularly when analyzing physical measurements. In such settings, multiple distinct…

Machine Learning · Computer Science 2026-02-10 Kateřina Henclová , Václav Šmídl

Genome Wide Association Studies (GWAS) and eQTL analyses have produced a large and growing number of genetic associations linked to a wide range of human phenotypes. As of 2013, there were more than 11,000 SNPs associated with a trait as…

Genomics · Quantitative Biology 2016-09-28 John Platig , Peter Castaldi , Dawn DeMeo , John Quackenbush

Missense variant interpretation remains challenging because pathogenicity depends on heterogeneous evidence from population frequency, evolutionary conservation, transcript context, amino acid substitution severity, prior pathogenicity…

Genomics · Quantitative Biology 2026-05-26 Muhammad Muneeb , David B. Ascher

In this paper we consider sparse and identifiable linear latent variable (factor) and linear Bayesian network models for parsimonious analysis of multivariate data. We propose a computationally efficient method for joint parameter and model…

Machine Learning · Statistics 2011-06-24 Ricardo Henao , Ole Winther

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

Genomics · Quantitative Biology 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

Data-driven automatic approaches have demonstrated their great potential in resolving various clinical diagnostic dilemmas for patients with malignant gliomas in neuro-oncology with the help of conventional and advanced molecular MR images.…

Computer Vision and Pattern Recognition · Computer Science 2020-08-28 Pengfei Guo , Puyang Wang , Jinyuan Zhou , Vishal M. Patel , Shanshan Jiang

With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex…

Methodology · Statistics 2025-08-18 Changshuai Wei , Ming Li , Zihuai He , Olga Vsevolozhskaya , Daniel J. Schaid , Qing Lu

Complex, non-additive genetic interactions are common and can be critical in determining phenotypes. Genome-wide association studies (GWAS) and similar statistical studies of linkage data, however, assume additive models of gene…

Genomics · Quantitative Biology 2010-03-05 Nikita A. Sakhanenko , David J. Galas

Understanding the spatiotemporal dynamics of disease progression in relation to transcriptomic profiles provides key insights into complex conditions such as Alzheimer disease. To enable such investigations, STARmap PLUS technology offers…

Applications · Statistics 2026-04-28 Zitian Wu , Susmita Datta , Arkaprava Roy

Grammar-Guided Genetic Programming (GGGP) employs a variety of insights from evolutionary theory to autonomously design solutions for a given task. Recent insights from evolutionary biology can lead to further improvements in GGGP…

Neural and Evolutionary Computing · Computer Science 2023-07-13 Stefano Tiso , Pedro Carvalho , Nuno Lourenço , Penousal Machado

Quantitative genetic studies that model complex, multivariate phenotypes are important for both evolutionary prediction and artificial selection. For example, changes in gene expression can provide insight into developmental and…

Applications · Statistics 2013-05-03 Daniel E Runcie , Sayan Mukherjee

Transcription factors (TFs), the key players in transcriptional regulation, have attracted great experimental attention, yet the functions of most human TFs remain poorly understood. Recent capabilities in genome-wide protein binding…

Molecular Networks · Quantitative Biology 2016-02-23 Yong Fuga Li , Russ B. Altman

Large language models (LLMs) offer strategy researchers powerful tools for annotating text at scale, but treating LLM-generated labels as deterministic overlooks substantial instability. Grounded in content analysis and generalizability…

Computers and Society · Computer Science 2026-01-21 Arnaldo Camuffo , Alfonso Gambardella , Saeid Kazemi , Jakub Malachowski , Abhinav Pandey

Liquid chromatography tandem mass spectrometry (LC-MS/MS) is a critical analytical technique for molecular identification across metabolomics, environmental chemistry, and chemical forensics. A variety of computational methods have emerged…

Quantitative Methods · Quantitative Biology 2026-02-10 Mrunali Manjrekar , Runzhong Wang , Samuel Goldman , Jenna C. Fromer , Connor W. Coley

Clustering with variable selection is a challenging yet critical task for modern small-n-large-p data. Existing methods based on sparse Gaussian mixture models or sparse K-means provide solutions to continuous data. With the prevalence of…

Machine Learning · Statistics 2020-04-28 Tanbin Rahman , Yujia Li , Tianzhou Ma , Lu Tang , George Tseng

Gene expression analysis holds the key to many biomedical discoveries, yet extracting insights from raw transcriptomic data remains formidable due to the complexity of multiple large, semi-structured files and the need for extensive domain…

Artificial Intelligence · Computer Science 2026-05-19 Haoyang Liu , Yijiang Li , Haohan Wang

Multi-view multi-label feature selection aims to identify informative features from heterogeneous views, where each sample is associated with multiple interdependent labels. This problem is particularly important in machine learning…

Artificial Intelligence · Computer Science 2025-11-20 Zhiqi Chen , Yuzhou Liu , Jiarui Liu , Wanfu Gao

Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous…

Applications · Statistics 2011-11-24 Bin Zhu , Allison E. Ashley-Koch , David B. Dunson

We propose a flexible regression framework to model the conditional distribution of multilevel generalized multivariate functional data of potentially mixed type, e.g. binary and continuous data. We make pointwise parametric distributional…

Methodology · Statistics 2024-07-31 Alexander Volkmann , Nikolaus Umlauf , Sonja Greven
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