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Genome-wide association studies, in which as many as a million single nucleotide polymorphisms (SNP) are measured on several thousand samples, are quickly becoming a common type of study for identifying genetic factors associated with many…

Methodology · Statistics 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

Polygenic risk scores can be used to model the individual genetic liability for human traits. Current methods primarily focus on modeling the mean of a phenotype neglecting the variance. However, genetic variants associated with phenotypic…

Applications · Statistics 2025-09-26 Qiong Wu , Hannah Klinkhammer , Kiran Kunwar , Christian Staerk , Carlo Maj , Andreas Mayr

Polygenic risk scores (PRS) estimate the genetic risk of an individual for a complex disease based on many genetic variants across the whole genome. In this study, we compared a series of computational models for estimation of breast cancer…

Quantitative Methods · Quantitative Biology 2023-07-26 Adrien Badré , Li Zhang , Wellington Muchero , Justin C. Reynolds , Chongle Pan

Recent genome-wide association studies (GWAS) have uncovered the genetic basis of complex traits, but show an under-representation of non-European descent individuals, underscoring a critical gap in genetic research. Here, we assess whether…

Machine Learning · Computer Science 2024-05-08 Thomas Le Menestrel , Erin Craig , Robert Tibshirani , Trevor Hastie , Manuel Rivas

To date, efforts to produce high-quality polygenic risk scores from genome-wide studies of common disease have focused on estimating and aggregating the effects of multiple SNPs. Here we propose a novel statistical approach for genetic risk…

Quantitative Methods · Quantitative Biology 2014-05-13 David Golan , Saharon Rosset

Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…

Methodology · Statistics 2021-01-11 Xing Qin , Shuangge Ma , Mengyun Wu

Recently, several classifiers that combine primary tumor data, like gene expression data, and secondary data sources, such as protein-protein interaction networks, have been proposed for predicting outcome in breast cancer. In these…

Machine Learning · Computer Science 2013-10-15 C. Staiger , S. Cadot , R. Kooter , M. Dittrich , T. Mueller , G. W. Klau , L. F. A. Wessels

Genetic nurture effects and assortative mating (AM) occur across many human behaviors and can bias estimates from traditional genetic models. These influences are typically studied univariately, within the same trait. However, estimation of…

Quantitative Methods · Quantitative Biology 2025-10-09 Xuanyu Lyu , Jared Balbona , Tong Chen , Matthew C. Keller

Many common diseases have a complex genetic basis in which large numbers of genetic variations combine with environmental and lifestyle factors to determine risk. However, quantifying such polygenic effects and their relationship to disease…

Complex diseases are multifactorial traits caused by both genetic and environmental factors. They represent the most part of human diseases and include those with largest prevalence and mortality (cancer, heart disease, obesity, etc.).…

Quantitative Methods · Quantitative Biology 2009-05-08 Roberto Amato , Michele Pinelli , Daniel D'Andrea , Gennaro Miele , Mario Nicodemi , Giancarlo Raiconi , Sergio Cocozza

Cognizance of gene-environment interactions may help prevent or detain the onset of complex diseases like cardiovascular disease, cancer, type2 diabetes, autism or asthma by adjustments to lifestyle. In this regard, we extend the Bayesian…

Applications · Statistics 2017-07-25 Durba Bhattacharya , Sourabh Bhattacharya

Kidney stones are a common and debilitating health issue, and genetic factors play a crucial role in determining susceptibility. While Genome-Wide Association Studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs)…

Genomics · Quantitative Biology 2024-12-24 Amr Salem , Anirban Mondal

Standard logistic regression analysis of case-control data has low power to detect gene-environment interactions, but until recently it was the only method that could be used on complex polygenic data for which parametric distributional…

Methodology · Statistics 2020-10-13 Tianying Wang , Alex Asher

For complex diseases, the interactions between genetic and environmental risk factors can have important implications beyond the main effects. Many of the existing interaction analyses conduct marginal analysis and cannot accommodate the…

Methodology · Statistics 2016-05-31 Yangguang Zang , Yinjun Zhao , Qingzhao Zhang , Hao Chai , Sanguo Zhang , Shuangge Ma

The biggest Breast cancer is increasingly a major factor in female fatalities, overtaking heart disease. While genetic factors are important in the growth of breast cancer, new research indicates that environmental factors also play a…

Machine Learning · Computer Science 2023-09-27 Muhammad Shoaib Farooq , Mehreen Ilyas

The ability to accurately estimate risk of developing breast cancer would be invaluable for clinical decision-making. One promising new approach is to integrate image-based risk models based on deep neural networks. However, one must take…

Image and Video Processing · Electrical Eng. & Systems 2020-09-17 Yue Liu , Hossein Azizpour , Fredrik Strand , Kevin Smith

This work proposes a unified framework to leverage biological information in network propagation-based gene prioritization algorithms. Preliminary results on breast cancer data show significant improvements over state-of-the-art baselines,…

Molecular Networks · Quantitative Biology 2020-02-18 Michele Gentili , Leonardo Martini , Manuela Petti , Lorenzo Farina , Luca Becchetti

Gene-gene and gene-environment interactions are widely believed to play significant roles in explaining the variability of complex traits. While substantial research exists in this area, a comprehensive statistical framework that addresses…

Methodology · Statistics 2026-02-18 Durba Bhattacharya , Sourabh Bhattacharya

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

Rapid advancements in genome sequencing have led to the collection of vast amounts of genomics data. Researchers may be interested in using machine learning models on such data to predict the pathogenicity or clinical significance of a…

Quantitative Methods · Quantitative Biology 2024-08-15 Arshmeet Kaur , Morteza Sarmadi
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