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With the expeditious advancement of information technologies, health-related data presented unprecedented potentials for medical and health discoveries but at the same time significant challenges for machine learning techniques both in…

Machine Learning · Computer Science 2018-11-05 Shuo Yang

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

Applications · Statistics 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

Applications · Statistics 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

Hypergraph offers a framework to depict the multilateral relationships in real-world complex data. Predicting higher-order relationships, i.e hyperedge, becomes a fundamental problem for the full understanding of complicated interactions.…

Social and Information Networks · Computer Science 2021-06-15 Changlin Wan , Muhan Zhang , Wei Hao , Sha Cao , Pan Li , Chi Zhang

Self-supervised pre-training methods have brought remarkable breakthroughs in the understanding of text, image, and speech. Recent developments in genomics has also adopted these pre-training methods for genome understanding. However, they…

Machine Learning · Computer Science 2022-04-15 Samuel Cahyawijaya , Tiezheng Yu , Zihan Liu , Tiffany T. W. Mak , Xiaopu Zhou , Nancy Y. Ip , Pascale Fung

Significant volumes of knowledge have been accumulated in recent years linking subtle genetic variations to a wide variety of medical disorders from Cystic Fibrosis to mental retardation. Nevertheless, there are still great challenges in…

Genomics · Quantitative Biology 2016-11-17 Yaniv Erlich , Assaf Gordon , Michael Brand , Gregory J. Hannon , Partha P. Mitra

Understanding epistasis (genetic interaction) may shed some light on the genomic basis of common diseases, including disorders of maximum interest due to their high socioeconomic burden, like schizophrenia. Distance correlation is an…

Feature selection techniques are essential for high-dimensional data analysis. In the last two decades, their popularity has been fuelled by the increasing availability of high-throughput biomolecular data where high-dimensionality is a…

Quantitative Methods · Quantitative Biology 2024-01-18 Pengyi Yang , Hao Huang , Chunlei Liu

This article is due to appear in the Handbook of Statistics, Vol. 43, Elsevier/North-Holland, Amsterdam, edited by Arni S. R. Srinivasa Rao and C. R. Rao. In modern day analytics, there is ever growing need to develop statistical models to…

Statistics Theory · Mathematics 2019-08-20 Deepak Nag Ayyala

Multimodal data modeling has emerged as a powerful approach in clinical research, enabling the integration of diverse data types such as imaging, genomics, wearable sensors, and electronic health records. Despite its potential to improve…

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

In this paper, association results from genome-wide association studies (GWAS) are combined with a deep learning framework to test the predictive capacity of statistically significant single nucleotide polymorphism (SNPs) associated with…

Computers and Society · Computer Science 2018-08-27 Casimiro Adays Curbelo Montañez , Paul Fergus , Almudena Curbelo Montañez , Carl Chalmers

Background: Selecting feature genes to predict phenotypes is one of the typical tasks in analyzing genomics data. Though many general-purpose algorithms were developed for prediction, dealing with highly correlated genes in the prediction…

Applications · Statistics 2022-04-11 Li Xing , Songwan Joun , Kurt Mackay , Mary Lesperance , Xuekui Zhang

Functional Data Analysis (FDA) is a statistical domain developed to handle functional data characterized by high dimensionality and complex data structures. Sequential Neural Networks (SNNs) are specialized neural networks capable of…

Machine Learning · Computer Science 2023-11-06 J. Zhao , J. Li , M. Chen , S. Jadhav

In recent years, ideas from statistics and scientific computing have begun to interact in increasingly sophisticated and fruitful ways with ideas from computer science and the theory of algorithms to aid in the development of improved…

Data Structures and Algorithms · Computer Science 2010-10-11 Michael W. Mahoney

Revealing relationships between genes and disease phenotypes is a critical problem in biomedical studies. This problem has been challenged by the heterogeneity of diseases. Patients of a perceived same disease may form multiple subgroups,…

Methodology · Statistics 2022-11-30 Yifan Sun , Ziye Luo , Xinyan Fan

The rapid advancement of medical technology has led to an exponential increase in multi-modal medical data, including imaging, genomics, and electronic health records (EHRs). Graph neural networks (GNNs) have been widely used to represent…

Quantitative Methods · Quantitative Biology 2024-10-03 Favour Nerrise , Alice Louise Heiman , Ehsan Adeli

Identifying relationships between molecular variations and their clinical presentations has been challenged by the heterogeneous causes of a disease. It is imperative to unveil the relationship between the high dimensional molecular…

Methodology · Statistics 2021-09-02 Wennan Chang , Changlin Wan , Yong Zang , Chi Zhang , Sha Cao

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

Genomic data sets are growing dramatically as the cost of sequencing continues to decline and small sequencing devices become available. Enormous community databases store and share this data with the research community, but some of these…