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Much of the natural variation for a complex trait can be explained by variation in DNA sequence levels. As part of sequence variation, gene-gene interaction has been ubiquitously observed in nature, where its role in shaping the development…

Applications · Statistics 2012-10-01 Shaoyu Li , Yuehua Cui

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

Motivation: The discovery of relationships between gene expression measurements and phenotypic responses is hampered by both computational and statistical impediments. Conventional statistical methods are less than ideal because they either…

Methodology · Statistics 2019-07-16 Lei Ding , Daniel J. McDonald

Large-scale biobanks are being collected around the world in efforts to better understand human health and risk factors for disease. They often survey hundreds of thousands of individuals, combining questionnaires with clinical, genetic,…

Quantitative Methods · Quantitative Biology 2019-03-19 Qifan Yang , Gennady V. Roshchupkin , Wiro J. Niessen , Sarah E. Medland , Alyssa H. Zhu , Paul M. Thompson , Neda Jahanshad

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

Machine Learning · Computer Science 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun

Motivation. Association studies have been widely used to search for associations between common genetic variants observations and a given phenotype. However, it is now generally accepted that genes and environment must be examined jointly…

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

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

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

Detecting the interactions of genetic compounds like genes, SNPs, proteins, metabolites, etc. can potentially unravel the mechanisms behind complex traits and common genetic disorders. Several methods have been taken into consideration for…

Computational Engineering, Finance, and Science · Computer Science 2015-05-26 Francesco Gadaleta

Single nucleotide polymorphisms (SNPs) represent an important type of dynamic sites within the human genome. These common variants often locally correlate into more complex multi-SNP haploblocks that are maintained throughout generations in…

Genomics · Quantitative Biology 2013-12-12 James Lindesay , Tshela E. Mason , William Hercules , Georgia M. Dunston

Genome-wide association studies (GWAS) have successfully identified over two hundred thousand genotype-trait associations. Yet some challenges remain. First, complex traits are often associated with many single nucleotide polymorphisms…

Methodology · Statistics 2023-02-07 Aastha Khatiwada , Ayse Selen Yilmaz , Bethany J. Wolf , Maciej Pietrzak , Dongjun Chung

Numerous phenomenological nuclear models have been proposed to describe specific observables within different regions of the nuclear chart. However, developing a unified model that describes the complex behavior of all nuclei remains an…

Nuclear Theory · Physics 2025-05-14 Jose M. Munoz , Silviu M. Udrescu , Ronald F. Garcia Ruiz

Gene-environment interactions have important implications to elucidate the genetic basis of complex diseases beyond the joint function of multiple genetic factors and their interactions (or epistasis). In the past, G$\times$E interactions…

Applications · Statistics 2020-03-09 Fei Zhou , Jie Ren , Xi Lu , Shuangge Ma , Cen Wu

Many diseases and traits involve a complex interplay between genes and environment, generating significant interest in studying gene-environment interaction through observational data. However, for lifestyle and environmental risk factors,…

Methodology · Statistics 2023-09-22 Malka Gorfine , Conghui Qu , Ulrike Peters , Li Hsu

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

Here we propose a test to detect effects of single nucleotide polymorphisms (SNPs) on a quantitative trait. Significant SNP-SNP interactions are more difficult to detect than significant SNPs, partly due to the massive amount of SNP-SNP…

A biological pathway represents a set of genes that serves a particular cellular or a physiological function. The genes within the same pathway are expected to function together and hence may interact with each other. It is also known that…

Methodology · Statistics 2012-06-14 Zaili Fang , Inyoung Kim , Jeesun Jung

Various statistical methods important for genetic analysis are considered and developed. Namely, we concentrate on the multifactor dimensionality reduction, logic regression, random forests and stochastic gradient boosting. These methods…

Probability · Mathematics 2011-06-29 Alexander Bulinski , Oleg Butkovsky , Alexey Shashkin , Pavel Yaskov

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

Methodology · Statistics 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu