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We propose a new multi-network-based strategy to integrate different layers of genomic information and use them in a coordinate way to identify driving cancer genes. The multi-networks that we consider combine transcription factor…

Molecular Networks · Quantitative Biology 2015-12-10 Laura Cantini , Enzo Medico , Santo Fortunato , Michele Caselle

Genetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants that cause loss-of-function, gain-of-function, or…

Quantitative Methods · Quantitative Biology 2025-06-17 Ali Saadat , Jacques Fellay

Large-scale multiple testing tasks often exhibit dependence, and leveraging the dependence between individual tests is still one challenging and important problem in statistics. With recent advances in graphical models, it is feasible to…

Methodology · Statistics 2012-10-19 Jie Liu , Chunming Zhang , Catherine McCarty , Peggy Peissig , Elizabeth Burnside , David Page

Identifying disease-indicative genes is critical for deciphering disease mechanisms and has attracted significant interest in biomedical research. Spatial transcriptomics offers unprecedented insights for the detection of disease-specific…

Methodology · Statistics 2024-09-05 Qicheng Zhao , Qihuang Zhang

In genome-wide association studies, hundreds of thousands of genetic features (genes, proteins, etc.) in a given case-control population are tested to verify existence of an association between each genetic marker and a specific disease. A…

Applications · Statistics 2021-02-01 Ali Karimnezhad

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

In recent years, there has been significant development in the analysis of medical data using machine learning. It is believed that the onset of Age-related Macular Degeneration (AMD) is associated with genetic polymorphisms. However,…

Computer Vision and Pattern Recognition · Computer Science 2024-09-18 Yoichi Furukawa , Satoshi Kamiya , Yoichi Sakurada , Kenji Kashiwagi , Kazuhiro Hotta

Cellular mechanism-of-action is of fundamental concern in many biological studies. It is of particular interest for identifying the cause of disease and learning the way in which treatments act against disease. However, pinpointing such…

Methodology · Statistics 2016-10-04 Paula J. Griffin , W. Evan Johnson , Eric D. Kolaczyk

We propose a novel and easy-to-implement joint location-scale association testing procedure that can account for complex genetic architecture without explicitly modeling interaction effects, and is suitable for large-scale whole-genome…

Methodology · Statistics 2014-11-14 David Soave , Andrew Paterson , Lisa Strug , Lei Sun

A way to enhance the performance of a model that combines genetic algorithms and fuzzy logic for feature selection and classification is proposed. Early diagnosis of any disease with less cost is preferable. Diabetes is one such disease.…

Neural and Evolutionary Computing · Computer Science 2011-03-02 E. P. Ephzibah

Diagnosing an inherited disease often requires identifying the pattern of inheritance in a patient's family. We represent family trees with genetic patterns of inheritance using hypergraphs and latent state space models to provide…

Machine Learning · Statistics 2018-12-06 Edmond Cunningham , Dana Schlegel , Andrew DeOrio

We present a new method based on Functional Data Analysis (FDA) for detecting associations between one or more scalar covariates and a longitudinal response, while correcting for other variables. Our methods exploit the temporal structure…

Applications · Statistics 2014-04-30 Matthew Reimherr , Dan Nicolae

A large amount of research has been devoted to the detection and investigation of epistatic interactions in genome-wide association studies (GWASs). Most of the literature focuses on low-order interactions between single-nucleotide…

Applications · Statistics 2017-02-17 Virginie Stanislas , Cyril Dalmasso , Christophe Ambroise

We consider in this paper detection of signal regions associated with disease outcomes in whole genome association studies. Gene- or region-based methods have become increasingly popular in whole genome association analysis as a…

Methodology · Statistics 2020-09-30 Zilin Li , Yaowu Liu , Xihong Lin

To better understand DNA's 3D folding in cell nuclei, researchers developed chromosome capture methods such as Hi-C that measure the contact frequencies between all DNA segment pairs across the genome. As Hi-C data sets often are massive,…

Biological Physics · Physics 2023-11-14 Anton Holmgren , Dolores Bernenko , Ludvig Lizana

An important step in unveiling the relation between network structure and dynamics defined on networks is to detect communities, and numerous methods have been developed separately to identify community structure in different classes of…

Data Analysis, Statistics and Probability · Physics 2011-06-07 Zhan WeiHua , Zhang Zhongzhi , Guan Jihong , Zhou Shuigeng

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

Methodology · Statistics 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

We tackle modelling and inference for variable selection in regression problems with many predictors and many responses. We focus on detecting hotspots, i.e., predictors associated with several responses. Such a task is critical in…

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

Genomics · Quantitative Biology 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

Epidemiologists commonly use regional aggregates of health outcomes to map mortality or incidence rates and identify geographic disparities. However, to detect health disparities across regions, it is necessary to identify "difference…

Methodology · Statistics 2025-05-14 Luca Aiello , Sudipto Banerjee