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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

Observed differences in mean phenotypic values across human groups have attracted renewed interest with the rise of large-scale genomic studies and polygenic risk prediction. However, the genetic basis of these differences is far more…

Populations and Evolution · Quantitative Biology 2026-05-25 Nicole Kleman , Meng Lin , Christopher R. Gignoux , Arslan A. Zaidi

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

Although genome-wide association studies (GWAS) on complex traits have achieved great successes, the current leading GWAS approaches simply perform to test each genotype-phenotype association separately for each genetic variant. Curiously,…

Applications · Statistics 2022-08-26 The Tien Mai , Pierre Alquier

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

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

Selection bias is a serious potential problem for inference about relationships of scientific interest based on samples without well-defined probability sampling mechanisms. Motivated by the potential for selection bias in (a) estimated…

Our work was motivated by a recent study on birth defects of infants born to pregnant women exposed to a certain medication for treating chronic diseases. Outcomes such as birth defects are rare events in the general population, which often…

Applications · Statistics 2017-02-24 Ronghui Xu , Jue Hou , Christina D. Chambers

To date, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants among a variety of traits/diseases, shedding a light on the genetic architecture of complex diseases. Polygenicity of complex…

Methodology · Statistics 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

We present a scalable framework for computing polygenic risk scores (PRS) in high-dimensional genomic settings using the recently introduced Univariate-Guided Sparse Regression (uniLasso). UniLasso is a two-stage penalized regression…

Propensity score weighting approaches have been widely implemented in clinical research to estimate the effects of a treatment or exposure while mitigating the risk of confounding in the absence of random assignment. In practice, when…

Methodology · Statistics 2026-04-17 Emma K. Mackay , Amol A. Verma , Fahad Razak , Surain B. Roberts

Individual performance and reputation within a company are major factors that influence wage distribution, promotion and firing. Due to the complexity and collaborative nature of contemporary business processes, the evaluation of individual…

Social and Information Networks · Computer Science 2020-01-01 Sofia Dokuka , Ivan Zaikin , Kate Furman , Maksim Tsvetovat , Alex Furman

Although displaying genetic correlations, psychiatric disorders are clinically defined as categorical entities as they each have distinguishing clinical features and may involve different treatments. Identifying differential genetic…

Genomics · Quantitative Biology 2021-05-24 Shitao Rao , Liangying Yin , Yong Xiang , Hon-Cheong So

In medical and epidemiological studies, one of the most common settings is studying the effect of a treatment on a time-to-event outcome, where the time-to-event might be censored before end of study. A common parameter of interest in such…

Methodology · Statistics 2024-02-15 Guilherme W. F. Barros , Jenny Häggström

Genome-Wide Association Studies (GWAS) explain only a small fraction of heritability for most complex human phenotypes. Genomic heritability estimates the variance explained by the SNPs on the whole genome using mixed models and accounts…

Propensity Score Matching (PSM) is a causal inference technique that is used as a substitution for experimental methods when it is not possible to implement them due to logistical and ethical concerns. By using a logistic classifier to…

Applications · Statistics 2025-01-15 Elizabeth Mohney , Alexey Shvets

Genome-wide association studies (GWAS) have identified hundreds of loci at very stringent levels of statistical significance across many different human traits. However, it is now clear that very large samples (n~10^4-10^5) are needed to…

Genomics · Quantitative Biology 2013-08-20 Inti Pedroso

Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…

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…

The propensity score analysis is one of the most widely used methods for studying the causal treatment effect in observational studies. This paper studies treatment effect estimation with the method of matching weights. This method…

Methodology · Statistics 2011-05-17 Liang Li