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Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

应用统计 · 统计学 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

Genome-wide association studies (GWA studies or GWAS) investigate the relationships between genetic variants such as single-nucleotide polymorphisms (SNPs) and individual traits. Recently, incorporating biological priors together with…

机器学习 · 统计学 2017-09-13 Tao Yang , Paul Thompson , Sihai Zhao , Jieping Ye

Large-scale genome-wide association studies (GWAS) have offered an exciting opportunity to discover putative causal genes or risk factors associated with diseases by using SNPs as instrumental variables (IVs). However, conventional…

统计方法学 · 统计学 2023-10-27 Ben Dai , Chunlin Li , Haoran Xue , Wei Pan , Xiaotong Shen

In estimating the average treatment effect in observational studies, the influence of confounders should be appropriately addressed. To this end, the propensity score is widely used. If the propensity scores are known for all the subjects,…

统计方法学 · 统计学 2023-12-08 Chengyao Tang , Yi Zhou , Ao Huang , Satoshi Hattori

Survival outcomes are common in comparative effectiveness studies and require unique handling because they are usually incompletely observed due to right-censoring. A ``once for all'' approach for causal inference with survival outcomes…

统计方法学 · 统计学 2021-12-21 Shuxi Zeng , Fan Li , Liangyuan Hu , Fan Li

While the individuals chosen for a genome-wide association study (GWAS) may not be closely related to each other, there can be distant (cryptic) relationships that confound the evidence of disease association. These cryptic relationships…

定量方法 · 定量生物学 2016-02-26 Bonnie Kirkpatrick , Alexandre Bouchard-Côté

The estimation of causal treatment effects from observational data is a fundamental problem in causal inference. To avoid bias, the effect estimator must control for all confounders. Hence practitioners often collect data for as many…

机器学习 · 统计学 2020-11-05 Kristjan Greenewald , Dmitriy Katz-Rogozhnikov , Karthik Shanmugam

Predictive or treatment selection biomarkers are usually evaluated in a subgroup or regression analysis with focus on the treatment-by-marker interaction. Under a potential outcome framework (Huang, Gilbert and Janes [Biometrics 68 (2012)…

应用统计 · 统计学 2015-02-04 Zhiwei Zhang , Lei Nie , Guoxing Soon , Aiyi Liu

Motivated by the important problem of detecting association between genetic markers and binary traits in genome-wide association studies, we present a novel Bayesian model that establishes a hierarchy between markers and genes by defining…

应用统计 · 统计学 2016-06-22 Ian Johnston , Timothy Hancock , Hiroshi Mamitsuka , Luis Carvalho

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…

统计计算 · 统计学 2023-02-21 Abhishek K. Umrawal , Sean P. Lane , Erin P. Hennes

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

统计方法学 · 统计学 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

Clinical study populations often differ meaningfully from the broader populations to which results are intended to generalize. Weighting methods such as inverse probability of sampling weights (IPSW) reweight study participants to resemble…

统计方法学 · 统计学 2025-12-02 William Stewart , Carly L. Brantner , Elizabeth A. Stuart , Laine Thomas

Causal inference methods have been applied in various fields where researchers want to estimate treatment effects. In traditional causal inference settings, one assumes that the outcome of a unit does not depend on treatments of other…

统计方法学 · 统计学 2022-09-05 Kelly Kung , Daniel L. Sussman

When random effects are correlated with sample design variables, the usual approach of employing individual survey weights (constructed to be inversely proportional to the unit survey inclusion probabilities) to form a pseudo-likelihood no…

统计方法学 · 统计学 2021-08-26 Terrance D. Savitsky , Matthew R. Williams

Genome-Wide Association Studies (GWAS) face unique challenges in the era of big genomics data, particularly when dealing with ultra-high-dimensional datasets where the number of genetic features significantly exceeds the available samples.…

基因组学 · 定量生物学 2023-12-27 Kexuan Li

Word embeddings are often criticized for capturing undesirable word associations such as gender stereotypes. However, methods for measuring and removing such biases remain poorly understood. We show that for any embedding model that…

计算与语言 · 计算机科学 2019-08-20 Kawin Ethayarajh , David Duvenaud , Graeme Hirst

In Genome-Wide Association Studies (GWAS) where multiple correlated traits have been measured on participants, a joint analysis strategy, whereby the traits are analyzed jointly, can improve statistical power over a single-trait analysis…

统计方法学 · 统计学 2018-07-30 Xingjie Shi , Yuling Jiao , Yi Yang , Ching-Yu Cheng , Can Yang , Xinyi Lin , Jin Liu

Genome-wide Association Studies (GWASs) for complex diseases often collect data on multiple correlated endo-phenotypes. Multivariate analysis of these correlated phenotypes can improve the power to detect genetic variants. Multivariate…

统计方法学 · 统计学 2015-03-12 Debashree Ray , James S Pankow , Saonli Basu

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…

机器学习 · 计算机科学 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Randomized experiments are widely used to estimate the causal effects of a proposed treatment in many areas of science, from medicine and healthcare to the physical and biological sciences, from the social sciences to engineering, to public…

统计方法学 · 统计学 2022-11-30 Christina Lee Yu , Edoardo M Airoldi , Christian Borgs , Jennifer T Chayes