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In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…

Genomics · Quantitative Biology 2017-02-22 Hon-Cheong So

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

Recently, there has been a resurgence of interest in rigorous algorithms for the inference of cancer progression from genomic data. The motivations are manifold: (i) growing NGS and single cell data from cancer patients, (ii) need for novel…

Machine Learning · Computer Science 2016-02-25 Daniele Ramazzotti

Integrating whole-slide images (WSIs) and bulk transcriptomics for predicting patient survival can improve our understanding of patient prognosis. However, this multimodal task is particularly challenging due to the different nature of…

Computer Vision and Pattern Recognition · Computer Science 2024-04-16 Guillaume Jaume , Anurag Vaidya , Richard Chen , Drew Williamson , Paul Liang , Faisal Mahmood

Significant advances in biotechnology have allowed for simultaneous measurement of molecular data points across multiple genomic and transcriptomic levels from a single tumor/cancer sample. This has motivated systematic approaches to…

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

Methodology · Statistics 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations…

Methodology · Statistics 2024-12-10 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

Introduction: To leverage functionality and clinical relevance into understanding systems biology, one needs to understand the pathway of the genetic effects on risk factors/disease through intermediate molecular levels, such as…

Genomics · Quantitative Biology 2018-09-14 Azam Yazdani , Akram Yazdani , Philip L. Lorenzi , Ahmad Samiei

We provide a view on high-dimensional statistical inference for genome-wide association studies (GWAS). It is in part a review but covers also new developments for meta analysis with multiple studies and novel software in terms of an…

Applications · Statistics 2020-02-17 Claude Renaux , Laura Buzdugan , Markus Kalisch , Peter Bühlmann

The development of targeted therapies, which benefit only a subgroup of patients treated for a given type of cancer, has been extremely attractive to many investigators. Adaptive seamless phase II/III designs in oncology clinical trials…

Applications · Statistics 2016-03-08 Ryuji Uozumi , Chikuma Hamada

Drug development is a very costly and lengthy process, while repositioned or repurposed drugs could be brought into clinical practice within a shorter time-frame and at a much reduced cost. The past decade has observed a massive growth in…

Genomics · Quantitative Biology 2019-11-14 Alexandria Lau , Hon-Cheong So

Modern disease classification often overlooks molecular commonalities hidden beneath divergent clinical presentations. This study introduces a transcriptomics-driven framework for discovering disease relationships by analyzing over 1300…

Genomics · Quantitative Biology 2025-08-08 Ke Chen , Haohan Wang

In The Cancer Genome Atlas (TCGA) data set, there are many interesting nonlinear dependencies between pairs of genes that reveal important relationships and subtypes of cancer. Such genomic data analysis requires a rapid, powerful and…

Applications · Statistics 2022-11-30 Siqi Xiang , Wan Zhang , Siyao Liu , Katherine A. Hoadley , Charles M. Perou , Kai Zhang , J. S. Marron

Cancer survival prediction is an active area of research that can help prevent unnecessary therapies and improve patient's quality of life. Gene expression profiling is being widely used in cancer studies to discover informative biomarkers…

Machine Learning · Computer Science 2016-11-18 Hamid Reza Hassanzadeh , John H. Phan , May D. Wang

In cancer research, high-throughput profiling has been extensively conducted. In recent studies, the integrative analysis of data on multiple cancer patient groups/subgroups has been conducted. Such analysis has the potential to reveal the…

Methodology · Statistics 2022-12-01 Yifan Sun , Zhengyang Sun , Yu Jiang , Yang Li , Shuangge Ma

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits, and some variants are shown to be associated with multiple complex traits. Genetic covariance between two traits is defined…

Methodology · Statistics 2023-10-06 Jianqiao Wang , Sai Li , Hongzhe Li

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

Gastric cancer and Colon adenocarcinoma represent widespread and challenging malignancies with high mortality rates and complex treatment landscapes. In response to the critical need for accurate prognosis in cancer patients, the medical…

Image and Video Processing · Electrical Eng. & Systems 2024-04-16 Xu Yan , Weimin Wang , MingXuan Xiao , Yufeng Li , Min Gao

Cancer is a complex disease driven by dynamic regulatory shifts that cannot be fully captured by individual molecular profiling. We employ a data-driven approach to construct a coarse-grained dynamic network model based on hallmark…

Quantitative Methods · Quantitative Biology 2025-02-28 Jiahe Wang , Yan Wu , Yuke Hou , Yang Li , Dachuan Xu , Changjing Zhuge , Yue Han