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With the evolution of single-cell RNA sequencing techniques into a standard approach in genomics, it has become possible to conduct cohort-level causal inferences based on single-cell-level measurements. However, the individual gene…

Methodology · Statistics 2025-04-23 Jin-Hong Du , Zhenghao Zeng , Edward H. Kennedy , Larry Wasserman , Kathryn Roeder

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

As data collections become larger, exploratory regression analysis becomes more important but more challenging. When observations are hierarchically clustered the problem is even more challenging because model selection with mixed effect…

Machine Learning · Statistics 2017-02-15 Patrick J. Miller , Daniel B. McArtor , Gitta H. Lubke

In genetic studies of complex diseases, the underlying mode of inheritance is often not known. Thus, the most powerful test or other optimal procedure for one model, e.g. recessive, may be quite inefficient if another model, e.g. dominant,…

Statistics Theory · Mathematics 2007-06-13 Gang Zheng , Boris Freidlin , Joseph L. Gastwirth

Genomic imprinting and maternal effects are two epigenetic factors that have been increasingly explored for their roles in the etiology of complex diseases. This is part of a concerted effort to find the "missing heritability." Accordingly,…

Applications · Statistics 2013-04-18 Jingyuan Yang , Shili Lin

Objective: SNP heritability estimates vary substantially across estimation strategies, yet the downstream consequences for polygenic risk score (PRS) construction remain poorly characterised. We systematically benchmarked heritability…

Genomics · Quantitative Biology 2026-04-06 Muhammad Muneeb , David B. Ascher

We tackle modelling and inference for variable selection in regression problems with many predictors and many responses. We focus on detecting hotspots, i.e., predictors associated with several responses. Such a task is critical in…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Diversity is an important factor in evolutionary algorithms to prevent premature convergence towards a single local optimum. In order to maintain diversity throughout the process of evolution, various means exist in literature. We analyze…

Neural and Evolutionary Computing · Computer Science 2018-10-31 Thomas Gabor , Lenz Belzner , Claudia Linnhoff-Popien

The prediction of phenotypic traits using high-density genomic data has many applications such as the selection of plants and animals of commercial interest; and it is expected to play an increasing role in medical diagnostics. Statistical…

Methodology · Statistics 2016-09-29 Marco Scutari , Ian Mackay , David Balding

Haplotype Inference is a challenging problem in bioinformatics that consists in inferring the basic genetic constitution of diploid organisms on the basis of their genotype. This information allows researchers to perform association studies…

Artificial Intelligence · Computer Science 2007-08-06 Luca Di Gaspero , Andrea Roli

The broad sense genetic heritability, which quantifies the total proportion of phenotypic variation in a population due to genetic factors, is crucial for understanding trait inheritance. While many existing methods focus on estimating…

Methodology · Statistics 2024-11-04 Olivia Bley , Elizabeth Lei , Andy Zhou , Xiaoxi Shen

The development of a complex disease is an intricate interplay of genetic and environmental factors. "Heritability" is defined as the proportion of total trait variance due to genetic factors within a given population. Studies with…

Methodology · Statistics 2018-10-19 Jaron Arbet , Matt McGue , Saonli Basu

When assessing the causal effect of a binary exposure using observational data, confounder imbalance across exposure arms must be addressed. Matching methods, including propensity score-based matching, can be used to deconfound the causal…

Methodology · Statistics 2024-10-01 Ernesto Ulloa-Pérez , Marco Carone , Alex Luedtke

Statistical power is a measure of the replicability of a categorical hypothesis test. Formally, it is the probability of detecting an effect, if there is a true effect present in the population. Hence, optimizing statistical power as a…

Computation · Statistics 2023-02-21 Abhishek K. Umrawal , Sean P. Lane , Erin P. Hennes

Linear mixed models are widely used for clustered data, but their reliance on parametric forms limits flexibility in complex and high-dimensional settings. In contrast, gradient boosting methods achieve high predictive accuracy through…

Machine Learning · Statistics 2025-11-04 Mitchell L. Prevett , Francis K. C. Hui , Zhi Yang Tho , A. H. Welsh , Anton H. Westveld

Latent Gaussian models and boosting are widely used techniques in statistics and machine learning. Tree-boosting shows excellent prediction accuracy on many data sets, but potential drawbacks are that it assumes conditional independence of…

Machine Learning · Computer Science 2022-08-24 Fabio Sigrist

In plant and animal breeding studies a distinction is made between the genetic value (additive + epistatic genetic effects) and the breeding value (additive genetic effects) of an individual since it is expected that some of the epistatic…

Applications · Statistics 2014-02-11 Deniz Akdemir

Boosting is a learning scheme that combines weak prediction rules to produce a strong composite estimator, with the underlying intuition that one can obtain accurate prediction rules by combining "rough" ones. Although boosting is proved to…

Machine Learning · Computer Science 2015-05-07 Shaobo Lin , Yao Wang , Lin Xu

Multi-model inference covers a wide range of modern statistical applications such as variable selection, model confidence set, model averaging and variable importance. The performance of multi-model inference depends on the availability of…

Statistics Theory · Mathematics 2019-06-07 Ching-Wei Cheng , Guang Cheng