English
Related papers

Related papers: Efficient testing and effect size estimation for s…

200 papers

The recent development of artificial intelligence (AI) technology, especially the advance of deep neural network (DNN) technology, has revolutionized many fields. While DNN plays a central role in modern AI technology, it has been rarely…

Machine Learning · Statistics 2023-12-07 Tingting Hou , Chang Jiang , Qing Lu

It has been shown that a random-effects framework can be used to test the association between a gene's expression level and the number of DNA copies of a set of genes. This gene-set modelling framework was later applied to find associations…

Methodology · Statistics 2015-10-09 Renée Menezes , Leila Mohammadi , Jelle Goeman , Judith Boer

Alcohol misuse is a key target of public health strategies aimed at reducing cardiovascular risk. The effect of excessive alcohol consumption on blood pressure may vary systematically with individuals' unobserved propensity to engage in…

Methodology · Statistics 2026-03-11 Ashish Patel , Francis J DiTraglia , Stephen Burgess

The vast majority of connections between complex disease and common genetic variants were identified through meta-analysis, a powerful approach that enables large samples sizes while protecting against common artifacts due to population…

A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of…

Quantitative Methods · Quantitative Biology 2017-08-08 Lev V. Utkin , Irina L. Utkina

We consider the problem of efficient inference of the Average Treatment Effect in a sequential experiment where the policy governing the assignment of subjects to treatment or control can change over time. We first provide a central limit…

Machine Learning · Statistics 2024-03-05 Thomas Cook , Alan Mishler , Aaditya Ramdas

Random-effects meta-analyses are widely used for evidence synthesis in medical research. However, conventional methods based on large-sample approximations often exhibit poor performance in case of very few studies (e.g., 2 to 4), which is…

Methodology · Statistics 2025-11-20 Ao Huang , Christian Röver , Tim Friede

Rare variants are hypothesized to be largely responsible for heritability and susceptibility to disease in humans. So rare variants association studies hold promise for understanding disease. Conversely though, the rareness of the variants…

Methodology · Statistics 2021-12-06 Lorenzo Masoero , Joshua Schraiber , Tamara Broderick

Gene-gene interactions are often regarded as playing significant roles in influencing variabilities of complex traits. Although much research has been devoted to this area, to date a comprehensive statistical model that addresses the…

Applications · Statistics 2018-04-18 Durba Bhattacharya , Sourabh Bhattacharya

Genome-wide association studies have proven to be essential for understanding the genetic basis of disease. However, many complex traits---personality traits, facial features, disease subtyping---are inherently high-dimensional, impeding…

Applications · Statistics 2015-12-09 Ashlee Valente , Geoffrey Ginsburg , Barbara E Engelhardt

Motivated by genome-wide association studies, we consider a standard linear model with one additional random effect in situations where many predictors have been collected on the same subjects and each predictor is analyzed separately.…

Applications · Statistics 2013-04-24 Matti Pirinen , Peter Donnelly , Chris C. A. Spencer

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…

Research on the localization of the genetic basis associated with diseases or traits has been widely conducted in the last a few decades. Scan methods have been developed for region-based analysis in whole-genome association studies,…

Methodology · Statistics 2024-10-31 Wei Zhang , Fan Wang , Fang Yao

We propose a Bayesian nonparametric (BNP) approach to causal inference using observational data consisting of outcome, treatment, and a set of confounders. The conditional distribution of the outcome given treatment and confounders is…

Methodology · Statistics 2025-12-01 Yongseok Hur , Joonhyuk Jung , Juhee Lee

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

With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new…

Methodology · Statistics 2025-08-19 Ming Li , Zihuai He , Min Zhang , Xiaowei Zhan , Changshuai Wei , Robert C Elston , Qing Lu

In large scale genetic association studies, a primary aim is to test for association between genetic variants and a disease outcome. The variants of interest are often rare, and appear with low frequency among subjects. In this situation,…

Methodology · Statistics 2017-12-20 Arjun Sondhi , Kenneth Martin Rice

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

Methodology · Statistics 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

Recently more and more evidence suggests that rare variants with much lower minor allele frequencies play significant roles in disease etiology. Advances in next-generation sequencing technologies will lead to many more rare variants…

Methodology · Statistics 2014-03-05 Ruixue Fan , Shaw-Hwa Lo

Association testing aims to discover the underlying relationship between genotypes (usually Single Nucleotide Polymorphisms, or SNPs) and phenotypes (attributes, or traits). The typically large data sets used in association testing often…

Applications · Statistics 2012-07-04 Zhen Li , Vikneswaran Gopal , Xiaobo Li , John M. Davis , George Casella