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The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

统计方法学 · 统计学 2014-04-30 Ruth Heller , Daniel Yekutieli

We investigate two approaches to increase the efficiency of phenotypic prediction from genome-wide markers, which is a key step for genomic selection (GS) in plant and animal breeding. The first approach is feature selection based on Markov…

统计方法学 · 统计学 2013-09-09 Marco Scutari , Ian Mackay , David J. Balding

A 'Winner's Curse' arises in large-scale online experimentation platforms when the same experiments are used to both select treatments and evaluate their effects. In these settings, classical difference-in-means estimators of treatment…

统计方法学 · 统计学 2025-11-11 Richard Mudd , Rina Friedberg , Ilya Gorbachev , Houssam Nassif , Abbas Zaidi

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

机器学习 · 统计学 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs. Family-based association…

统计方法学 · 统计学 2010-10-25 Nan M. Laird , Christoph Lange

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…

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…

统计方法学 · 统计学 2016-09-29 Marco Scutari , Ian Mackay , David Balding

We construct genomic predictors for heritable and extremely complex human quantitative traits (height, heel bone density, and educational attainment) using modern methods in high dimensional statistics (i.e., machine learning). Replication…

基因组学 · 定量生物学 2017-09-20 Louis Lello , Steven G. Avery , Laurent Tellier , Ana Vazquez , Gustavo de los Campos , Stephen D. H. Hsu

We consider the problem of estimating quantile treatment effects without assuming strict overlap , i.e., we do not assume that the propensity score is bounded away from zero. More specifically, we consider an inverse probability weighting…

统计理论 · 数学 2026-02-24 Marco Avella-Medina , Richard Davis , Gennady Samorodnitsky

In genetic association studies, a single marker is often associated with multiple, correlated phenotypes (e.g., obesity and cardiovascular disease, or nicotine dependence and lung cancer). A pervasive question is then whether that marker…

统计方法学 · 统计学 2011-12-22 Carlo Berzuini , Stijn Vansteelandt , Luisa Foco , Roberta Pastorino , Luisa Bernardinelli

Causal discovery can be computationally demanding for large numbers of variables. If we only wish to estimate the causal effects on a small subset of target variables, we might not need to learn the causal graph for all variables, but only…

机器学习 · 统计学 2025-02-13 Mátyás Schubert , Tom Claassen , Sara Magliacane

The topic of multiple hypotheses testing now has a potpourri of novel theories and ubiquitous applications in diverse scientific fields. However, the universal utility of this field often hinders the possibility of having a generalized…

统计理论 · 数学 2025-04-25 Monitirtha Dey , Subir Kumar Bhandari

It is widely recognized nowadays that complex diseases are caused by, amongst the others, multiple genetic factors. The recent advent of genome-wide association study (GWA) has triggered a wave of research aimed at discovering genetic…

应用统计 · 统计学 2011-09-30 Nguyen Xuan Vinh

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…

应用统计 · 统计学 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

When examining a contrast between two interventions, longitudinal causal inference studies frequently encounter positivity violations when one or both regimes are impossible to observe for some subjects. Existing weighting methods either…

统计方法学 · 统计学 2025-08-11 Alec McClean , Iván Díaz

Propensity scores are commonly used to reduce the confounding bias in non-randomized observational studies for estimating the average treatment effect. An important assumption underlying this approach is that all confounders that are…

统计方法学 · 统计学 2022-08-02 Youfei Yu , Jiacong Du , Min Zhang , Zhenke Wu , Andrew M. Ryan , Bhramar Mukherjee

Generalized causal effect estimands, including the Mann-Whitney parameter and causal net benefit, provide flexible summaries of treatment effects in randomized experiments with non-Gaussian or multivariate outcomes. We develop a unified…

统计方法学 · 统计学 2026-02-27 Xinyuan Chen , Fan Li

As a living information and communications system, the genome encodes patterns in single nucleotide polymorphisms (SNPs) reflecting human adaption that optimizes population survival in differing environments. This paper mathematically…

种群与进化 · 定量生物学 2018-03-22 James Lindesay , Tshela E. Mason , William Hercules , Georgia M. Dunston

Mediation analysis is a powerful tool for studying causal pathways between exposure, mediator, and outcome variables of interest. While classical mediation analysis using observational data often requires strong and sometimes unrealistic…

统计方法学 · 统计学 2024-05-20 Rita Qiuran Lyu , Chong Wu , Xinwei Ma , Jingshen Wang

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…

基因组学 · 定量生物学 2026-04-06 Muhammad Muneeb , David B. Ascher