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Generative adversarial networks (GANs) are one powerful type of deep learning models that have been successfully utilized in numerous fields. They belong to a broader family called generative methods, which generate new data with a…

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 seek to identify genes involved in Parkinson's Disease (PD) by combining information across different experiment types. Each experiment, taken individually, may contain too little information to distinguish some important genes from…

Prediction of mRNA gene-expression profiles directly from routine whole-slide images (WSIs) using deep learning models could potentially offer cost-effective and widely accessible molecular phenotyping. While such WSI-based gene-expression…

Genomics · Quantitative Biology 2024-10-03 Fredrik K. Gustafsson , Mattias Rantalainen

Reconstruction of gene regulatory networks is the process of identifying gene dependency from gene expression profile through some computation techniques. In our human body, though all cells pose similar genetic material but the activation…

Drug Side-Effects (DSEs) have a high impact on public health, care system costs, and drug discovery processes. Predicting the probability of side-effects, before their occurrence, is fundamental to reduce this impact, in particular on drug…

Quantitative Methods · Quantitative Biology 2022-02-17 Pietro Bongini , Franco Scarselli , Monica Bianchini , Giovanna Maria Dimitri , Niccolò Pancino , Pietro Liò

In genomics studies, the investigation of the gene relationship often brings important biological insights. Currently, the large heterogeneous datasets impose new challenges for statisticians because gene relationships are often local. They…

Methodology · Statistics 2022-03-07 Jinjin Tian , Jing Lei , Kathryn Roeder

Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss…

Methodology · Statistics 2010-10-26 Peter Kraft , Eleftheria Zeggini , John P. A. Ioannidis

Prognostic genes have been well studied within each type of cancer. However, investigations of the similarities and differences across cancer types are rare. In view of the optimal course of treatment, the classification of cancers into…

Applications · Statistics 2019-03-20 Arturo Chavez , Dimitris Koutentakis , Youzhi Liang , Sonali Tripathy , Jie Yun

Motivation: Predicting gene-disease associations (GDAs) is the problem to determine which gene is associated with a disease. GDA prediction can be framed as a ranking problem where genes are ranked for a query disease, based on features…

Quantitative Methods · Quantitative Biology 2026-02-03 Fernando Zhapa-Camacho , Robert Hoehndorf

In genome-wide association (GWA) studies the goal is to detect association between one or more genetic markers and a given phenotype. The number of genetic markers in a GWA study can be in the order hundreds of thousands and therefore…

Methodology · Statistics 2016-12-22 Kari Krizak Halle , Srdjan Djurovic , Ole Andreas Andreassen , Mette Langaas

A large number of recent genome-wide association studies (GWASs) for complex phenotypes confirm the early conjecture for polygenicity, suggesting the presence of large number of variants with only tiny or moderate effects. However, due to…

Genomics · Quantitative Biology 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

The aetiology of polygenic obesity is multifactorial, which indicates that life-style and environmental factors may influence multiples genes to aggravate this disorder. Several low-risk single nucleotide polymorphisms (SNPs) have been…

Genomics · Quantitative Biology 2018-08-27 Casimiro A. Curbelo Montañez , Paul Fergus , Carl Chalmers , Jade Hind

Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and…

Methodology · Statistics 2025-08-18 Changshuai Wei , Robert C. Elston , Qing Lu

Graphical models have gained a lot of attention recently as a tool for learning and representing dependencies among variables in multivariate data. Often, domain scientists are looking specifically for differences among the dependency…

Machine Learning · Statistics 2013-07-11 Diane Oyen , Alexandru Niculescu-Mizil , Rachel Ostroff , Alex Stewart , Vincent P. Clark

Unraveling the co-expression of genes across studies enhances the understanding of cellular processes. Inferring gene co-expression networks from transcriptome data presents many challenges, including spurious gene correlations, sample…

Machine Learning · Statistics 2024-10-01 Teodora Pandeva , Martijs Jonker , Leendert Hamoen , Joris Mooij , Patrick Forré

Alzheimer's Disease (AD) is a neurodegenerative disease affecting millions of individuals across the globe. As the prevalence of this disease continues to rise, early diagnosis is crucial to improve clinical outcomes. Neural networks,…

Image and Video Processing · Electrical Eng. & Systems 2024-09-06 Akshay Sunkara , Rajiv Morthala , Anav Jain , Srinjoy Ghose , Santosh Morthala

Gene-gene interactions play a crucial role in the manifestation of complex human diseases. Uncovering significant gene-gene interactions is a challenging task. Here, we present an innovative approach utilizing data-driven computational…

Artificial Intelligence · Computer Science 2024-10-22 Yifan Wu , Yuntao Yang , Zirui Liu , Zhao Li , Khushbu Pahwa , Rongbin Li , Wenjin Zheng , Xia Hu , Zhaozhuo Xu

While studies show that autism is highly heritable, the nature of the genetic basis of this disorder remains illusive. Based on the idea that highly correlated genes are functionally interrelated and more likely to affect risk, we develop a…

Methodology · Statistics 2015-11-18 Li Liu , Jing Lei , Kathryn Roeder

Motivated by the important problem of detecting association between genetic markers and binary traits in genome-wide association studies, we present a novel Bayesian model that establishes a hierarchy between markers and genes by defining…

Applications · Statistics 2016-06-22 Ian Johnston , Timothy Hancock , Hiroshi Mamitsuka , Luis Carvalho