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The development of next generation sequencing (NGS) technology and genotype imputation methods enabled researchers to measure both common and rare variants in genome-wide association studies (GWAS). Statistical methods have been proposed to…

Methodology · Statistics 2018-12-14 XIaoyu Cai , Lo-Bin Chang , Chi Song

Confounding control is crucial and yet challenging for causal inference based on observational studies. Under the typical unconfoundness assumption, augmented inverse probability weighting (AIPW) has been popular for estimating the average…

Methodology · Statistics 2023-01-27 Eunah Cho , Shu Yang

Collaboration between different data centers is often challenged by heterogeneity across sites. To account for the heterogeneity, the state-of-the-art method is to re-weight the covariate distributions in each site to match the distribution…

Machine Learning · Statistics 2024-04-25 Tianyu Guo , Sai Praneeth Karimireddy , Michael I. Jordan

When searching for gene pathways leading to specific disease outcomes, additional information on gene characteristics is often available that may facilitate to differentiate genes related to the disease from irrelevant background when…

Machine Learning · Statistics 2018-09-10 Yunpeng Zhao , Qing Pan , Chengan Du

Propensity score methods are widely used for estimating treatment effects from observational studies. A popular approach is to estimate propensity scores by maximum likelihood based on logistic regression, and then apply inverse probability…

Methodology · Statistics 2017-10-24 Zhiqiang Tan

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

Genomics · Quantitative Biology 2024-11-19 Yuzhou Jiang , Erman Ayday

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

Applications · Statistics 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

Recently, high-dimensional heterogeneous data have attracted a lot of attention and discussion. Under heterogeneity, semiparametric regression is a popular choice to model data in statistics. In this paper, we take advantages of expectile…

Statistics Theory · Mathematics 2019-08-20 Jun Zhao , Guan'ao Yan , Yi Zhang

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

A large number of recent genome-wide association studies (GWASs) for complex phenotypes confirm the early conjecture for polygenicity, suggesting the presence of large number of variants with only tiny or moderate effects. However, due to…

Genomics · Quantitative Biology 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

There is a growing interest in estimating heterogeneous treatment effects across individuals using their high-dimensional feature attributes. Achieving high performance in such high-dimensional heterogeneous treatment effect estimation is…

Machine Learning · Statistics 2024-06-04 Yoichi Chikahara , Kansei Ushiyama

The family-wise error rate (FWER) has been widely used in genome-wide association studies. With the increasing availability of functional genomics data, it is possible to increase the detection power by leveraging these genomic functional…

Methodology · Statistics 2020-12-25 Huijuan Zhou , Xianyang Zhang , Jun Chen

Genetic Gaussian network of multiple phenotypes constructed through the genetic correlation matrix is informative for understanding their biological dependencies. However, its interpretation may be challenging because the estimated genetic…

Methodology · Statistics 2024-12-31 Yihe Yang , Noah Lorincz-Comi , Xiaofeng Zhu

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…

We consider estimation of average treatment effects given observational data with high-dimensional pretreatment variables. Existing methods for this problem typically assume some form of sparsity for the regression functions. In this work,…

Methodology · Statistics 2024-04-12 Yuhao Wang , Rajen D. Shah

Propensity score weighting is an important tool for comparative effectiveness research.Besides the inverse probability of treatment weights (IPW), recent development has introduced a general class of balancing weights, corresponding to…

Methodology · Statistics 2022-09-05 Tianhui Zhou , Guangyu Tong , Fan Li , Laine E. Thomas , Fan Li

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

Genome-wide Association Studies (GWASes) identify genomic variations that are statistically associated with a trait, such as a disease, in a group of individuals. Unfortunately, careless sharing of GWAS statistics might give rise to privacy…

Genomics · Quantitative Biology 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Antoine Boutet , Marcus Völp

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

Genetic variation in human populations is influenced by geographic ancestry due to spatial locality in historical mating and migration patterns. Spatial population structure in genetic datasets has been traditionally analyzed using either…

Populations and Evolution · Quantitative Biology 2016-10-26 Anand Bhaskar , Adel Javanmard , Thomas A. Courtade , David Tse
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