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We consider integrative modeling of multiple gene networks and diverse genomic data, including protein-DNA binding, gene expression and DNA sequence data, to accurately identify the regulatory target genes of a transcription factor (TF).…

Applications · Statistics 2012-03-21 Peng Wei , Wei Pan

Clinical end-point traits are often characterized by quantitative or qualitative precursors and it has been argued that it may be statistically a more powerful strategy to analyze these precursor traits to decipher the genetic architecture…

Methodology · Statistics 2025-04-17 Soumya Sahu , Saurabh Ghosh

Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants…

Populations and Evolution · Quantitative Biology 2013-06-18 M. Cyrus Maher , Lawrence H. Uricchio , Dara G. Torgerson , Ryan D. Hernandez

In genetic epidemiological studies, family history data are collected on relatives of study participants and used to estimate the age-specific risk of disease for individuals who carry a causal mutation. However, a family member's genotype…

Gene interaction graphs aim to capture various relationships between genes and can represent decades of biology research. When trying to make predictions from genomic data, those graphs could be used to overcome the curse of dimensionality…

Approaches for testing sets of variants, such as a set of rare or common variants within a gene or pathway, for association with complex traits are important. In particular, set tests allow for aggregation of weak signal within a set, can…

Genomics · Quantitative Biology 2013-05-28 Jennifer Listgarten , Christoph Lippert , Eun Yong Kang , Jing Xiang , Carl M. Kadie , David Heckerman

Distance-based regression model, as a nonparametric multivariate method, has been widely used to detect the association between variations in a distance or dissimilarity matrix for outcomes and predictor variables of interest in genetic…

Statistics Theory · Mathematics 2022-03-14 Yuke Shi , Wei Zhang , Aiyi Liu , Qizhai Li

In this paper, we will show that the recently introduced graphical model: Conditional Random Fields (CRF) provides a template to integrate micro-level information about biological entities into a mathematical model to understand their…

Machine Learning · Computer Science 2020-08-07 Lior Lukov , Sanjay Chawla , Wei Liu , Brett Church , Gaurav Pandey

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

We propose a general and formal statistical framework for multiple tests of association between known fixed features of a genome and unknown parameters of the distribution of variable features of this genome in a population of interest. The…

Applications · Statistics 2008-12-18 Sandrine Dudoit , Sündüz Keleş , Mark J. van der Laan

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

Joint models for longitudinal and time-to-event data are commonly used in longitudinal studies to forecast disease trajectories over time. While there are many advantages to joint modeling, the standard forms suffer from limitations that…

Machine Learning · Statistics 2019-09-09 Bryan Lim , Mihaela van der Schaar

This work is motivated by analyses of longitudinal data collected from participants in the Quebec Longitudinal Study of Child Development (QLSCD) and the Quebec Newborn Twin Study (QNTS) to identify important genetic predictors for…

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

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

Gene expression-based heterogeneity analysis has been extensively conducted. In recent studies, it has been shown that network-based analysis, which takes a system perspective and accommodates the interconnections among genes, can be more…

Methodology · Statistics 2023-08-09 Rong Li , Qingzhao Zhang , Shuangge Ma

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

In many transcriptomic studies, the correlation of genes might fluctuate with quantitative factors such as genetic ancestry. We propose a method that models the covariance between two variables to vary against a continuous covariate. For…

Methodology · Statistics 2021-05-03 Tae Hyun Kim , Dan Nicolae

Generative Adversarial Networks (GANs) are modern methods to learn the underlying distribution of a data set. GANs have been widely used in sample synthesis, de-noising, domain transfer, etc. GANs, however, are designed in a model-free…

Machine Learning · Computer Science 2021-03-01 Mucong Ding , Constantinos Daskalakis , Soheil Feizi

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

Methodology · Statistics 2013-08-14 Nicolas Städler , Sach Mukherjee