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Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs. Family-based association…

Methodology · Statistics 2010-10-25 Nan M. Laird , Christoph Lange

Background: Genomic instability is a hallmark of cancer, leading to many somatic alterations. Identifying which alterations have a system-wide impact is a challenging task. Nevertheless, this is an essential first step for prioritizing…

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

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

Tumors often contain multiple subpopulations of cancerous cells defined by distinct somatic mutations. We describe a new method, PhyloWGS, that can be applied to WGS data from one or more tumor samples to reconstruct complete genotypes of…

Populations and Evolution · Quantitative Biology 2015-01-08 Amit G. Deshwar , Shankar Vembu , Christina K. Yung , Gun Ho Jang , Lincoln Stein , Quaid Morris

Surrogate models based on machine learning methods have become an important part of modern engineering to replace costly computer simulations. The data used for creating a surrogate model are essential for the model accuracy and often…

Machine Learning · Statistics 2023-10-03 Sven Lämmle , Can Bogoclu , Kevin Cremanns , Dirk Roos

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

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

The problems of large-scale multiple testing are often encountered in modern scientific researches. Conventional multiple testing procedures usually suffer considerable loss of testing efficiency due to the lack of consideration of…

Methodology · Statistics 2022-12-21 Pengfei Wang , Zhaofeng Tian

Over the past decades, statisticians and machine-learning researchers have developed literally thousands of new tools for the reduction of high-dimensional data in order to identify the variables most responsible for a particular trait.…

Machine Learning · Statistics 2012-05-31 Chamont Wang , Jana Gevertz , Chaur-Chin Chen , Leonardo Auslender

To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…

Machine Learning · Computer Science 2025-07-01 Alan N. Amin , Andres Potapczynski , Andrew Gordon Wilson

Cancer remains one of the leading causes of morbidity and mortality worldwide. Comprehensive datasets that combine histopathological images with genetic and survival data across various tumour sites are essential for advancing computational…

Computer Vision and Pattern Recognition · Computer Science 2025-11-04 Craig Myles , In Hwa Um , Craig Marshall , David Harris-Birtill , David J. Harrison

Recent advances in biological research have seen the emergence of high-throughput technologies with numerous applications that allow the study of biological mechanisms at an unprecedented depth and scale. A large amount of genomic data is…

Machine Learning · Statistics 2020-05-11 Nanwei Wang , Laurent Briollais , Helene Massam

Inferring the structure of gene regulatory networks (GRN) from gene expression data has many applications, from the elucidation of complex biological processes to the identification of potential drug targets. It is however a notoriously…

Machine Learning · Statistics 2012-05-08 Anne-Claire Haury , Fantine Mordelet , Paola Vera-Licona , Jean-Philippe Vert

Enhancing the robustness of deep learning models against adversarial attacks is crucial, especially in critical domains like healthcare where significant financial interests heighten the risk of such attacks. Whole slide images (WSIs) are…

Computer Vision and Pattern Recognition · Computer Science 2024-03-22 Saba Heidari Gheshlaghi , Milan Aryal , Nasim Yahyasoltani , Masoud Ganji

In this work, we study the social learning problem, in which agents of a networked system collaborate to detect the state of the nature based on their private signals. A novel distributed graphical evolutionary game theoretic learning…

Computer Science and Game Theory · Computer Science 2017-05-24 Xuanyu Cao , K. J. Ray Liu

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

Machine learning methods can detect complex relationships between variables, but usually do not exploit domain knowledge. This is a limitation because in many scientific disciplines, such as systems biology, domain knowledge is available in…

Artificial Intelligence · Computer Science 2023-07-31 Bastian Pfeifer , Hubert Baniecki , Anna Saranti , Przemyslaw Biecek , Andreas Holzinger

Genome-scale screening experiments in cancer produce long lists of candidate genes that require extensive interpretation for biological insight and prioritization for follow-up studies. Interrogation of gene lists frequently represents a…

Genetic Algorithms are a popular set of optimization algorithms often used to aid software testing. However, no work has been done to apply systematic software testing techniques to genetic algorithms because of the stochasticity and the…

Software Engineering · Computer Science 2018-08-06 Janette Rounds , Upulee Kanewala